Category Archives: Genome

This article was originally published here

mSystems. 2022 May 18:e0017922. doi: 10.1128/msystems.00179-22. Online ahead of print.

ABSTRACT

Insertions in the SARS-CoV-2 genome have the potential to drive viral evolution, but the source of the insertions is often unknown. Recent proposals have suggested that human RNAs could be a source of some insertions, but the small size of many insertions makes this difficult to confirm. Through an analysis of available direct RNA sequencing data from SARS-CoV-2-infected cells, we show that viral-host chimeric RNAs are formed through what are likely stochastic RNA-dependent RNA polymerase template-switching events. Through an analysis of the publicly available GISAID SARS-CoV-2 genome collection, we identified two genomic insertions in circulating SARS-CoV-2 variants that are identical to regions of the human 18S and 28S rRNAs. These results provide direct evidence of the formation of viral-host chimeric sequences and the integration of host genetic material into the SARS-CoV-2 genome, highlighting the potential importance of host-derived insertions in viral evolution. IMPORTANCE Throughout the COVID-19 pandemic, the sequencing of SARS-CoV-2 genomes has revealed the presence of insertions in multiple globally circulating lineages of SARS-CoV-2, including the Omicron variant. The human genome has been suggested to be the source of some of the larger insertions, but evidence for this kind of event occurring is still lacking. Here, we leverage direct RNA sequencing data and SARS-CoV-2 genomes to show that host-viral chimeric RNAs are generated in infected cells and two large genomic insertions have likely been formed through the incorporation of host rRNA fragments into the SARS-CoV-2 genome. These host-derived insertions may increase the genetic diversity of SARS-CoV-2 and expand its strategies to acquire genetic material, potentially enhancing its adaptability, virulence, and spread.

PMID:35582907 | DOI:10.1128/msystems.00179-22

Continued here:
Putative Host-Derived Insertions in the Genomes of Circulating SARS-CoV-2 Variants - DocWire News

Prime Minister Narendra Modi announced on Thursday (May 12) that the Indian SARS-CoV-2 Genomics Consortium (INSACOG) would be extended to Indias neighbouring countries.

India has developed low-cost mitigation technologies for testing, treating, and data management. We have offered these capabilities to other countries. Indias genomic consortium has contributed significantly to the global database on the virus. I am happy to share that we will extend this network to countries in our neighbourhood, Modi said at the opening session of the second global Covid virtual summit.

The network

INSACOG was established in December 2020 as a joint initiative of the Union Health Ministry of Health and Department of Biotechnology (DBT) (under the Ministry of Science and Technology) with the Council for Scientific & Industrial Research (CSIR) and Indian Council of Medical Research (ICMR) to expand the whole-genome sequencing of SARS-CoV-2, the coronavirus that causes the Covid-19 disease, across India with the aim of understanding how the virus spreads and evolves.

INSACOG started out with the participation of 10 national research laboratories of the central government, and gradually expanded to a network of 38 labs, including private labs, operating on a hub-and-spoke model.

The 10 INSACOG Genome Sequencing Laboratories handhold the new laboratories, and the pan-India consortium works to monitor genomic variations in SARS-CoV-2 by a sentinel sequencing effort which is facilitated by the National Centre for Disease Control (NCDC), involving the Central Surveillance Unit (CSU) under the central governments Integrated Disease Surveillance Programme (IDSP).

How it helps

The data from the genome sequencing laboratories is analysed as per the field data trends to study the linkages, if any, between the genomic variants and epidemiological trends. This, the INSACOG website says, helps to understand super spreader events and outbreaks, and strengthen public health interventions across the country to help break chains of transmission.

Linking this data with IDSP data and the patients symptoms helps to better understand viral infection dynamics, and trends of morbidity and mortality. The data can be linked with host genomics, immunology, clinical outcomes, and risk factors for a more comprehensive outlook. Sequencing assumes added significance as the incidence of reinfections and vaccine breakthroughs increases.

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INSACOG is also working to establish a systematic correlation between genome sequencing and clinical outcomes. The consortium is working towards establishing a hospital network across the country with the aim to study clinical correlations in mild vs severe cases of Covid-19, and to carry out a longitudinal study to understand long-term post-Covid complications and change in immunity. INSACOG is also looking to expand to sewage surveillance as an early detection tool, and to assess the spread of variants in hotspot localities.

See the article here:
Explained: What is INSACOG, Indias network of labs to sequence the genome of the Covid-19 coronavirus? - The Indian Express

Albany NY, United States: Cancer Genome Sequencing Market: Snapshot

Cancer genome sequencing market is anticipated to witness exponential growth during the forecast period of 2021-2031 due to emergence of next-gen sequencing technology that is offering exclusive sensitivity and resolution. Cancer genome sequencing is developing at a faster pace and can be altered in their gross chromosomal structure through amplification, Furthermore, the efforts to make it cost-effective and accurate, may generate ample revenue opportunities for the cancer genome sequencing market.

On the basis of technology the cancer genome sequencing market can be segmented into second generation technology platforms and third generation technology platforms. Further, the second generation technology platform can be classified into solid sequencing, pyro sequencing, and bridge amplification sequencing technology. The third generation technology platforms include single molecule real time sequencing, Nanopore sequencing, florescent resonant energy transfer sequencing.

The in-depth analysis performed by the team of analysts TMR provides all important information about the current market scenario. It assists the CXOs to make proper decisions regarding investments and collaborations. The factors that are taken into consideration are the market trends, key drivers, restrains, opportunities, and challenges in the cancer genome sequencing market.. The impact of COVID-19, in particular, is also covered in this report.

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Cancer Genome Sequencing Market: Key Trends and Opportunities

The rising incidences of cancer across the globe has led to the development of cancer genome sequencing for detecting copy number alterations, exome wide base substitutions, and translocations in all cancer cells easily. Taking all these aspects into consideration, the global cancer genome sequencing market may grow substantially. Significant rise in the geriatric population and the escalating rate of patients diagnosed with chronic diseases and cancer are increasing the demand for the cancer genome sequencing market. Thus, these aspects are likely to bring multiple growth opportunities for the market.

Cancer genome sequencing helps in the proper diagnosis of tumors irrespective of its location. It also helps in viewing the whole genome and has the ability to eliminate the requirement of having updates regarding patients history. Further, the personalization of cancer treatment is likely to be a growth booster for the cancer genome sequencing market in the coming years.

Development in computing power has led to wide range of applications in cancer genome sequencing market such as personalized medicine, detection of biomarker, and others. In addition, the improved and quick computing technologies in anticancer therapies and pharmacogenomics are likely to create multiple opportunities for the cancer genome sequencing market.

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Cancer Genome Sequencing Market: Competitive Insights

The key players are trying hard to make the sequencing technology cost effective by finding out alternatives that can be comparatively inexpensive. One such alternative is targeted gene sequencing method which is affordable and effective.

The key players are investing in research and development activities to innovate new technologies to upgrade their products. The key players are analyzing the prevailing opportunities to strengthen their market presence. The investments in R&D activities have led to replacing the traditional tools of genomics with technologically advanced cancer genome sequencing applications.

The key players operating in the Cancer genome sequencing market are Ambry Genetics, BGI Americas Corporation, Beckman Coulter Genomics, Illumina, Inc., Pacific Biosciences, and Pacific Biosciences

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Cancer Genome Sequencing Market: Regional Prospects

Cancer genome sequencing market can be segmented into North America, Europe, Asia Pacific, and LAMEA based on the regions. North America is anticipated to show a high growth trajectory in the cancer genome sequencing market due to the increasing awareness about cancer genome sequencing applications. Europe also may create multiple growth avenues for the global market owing to the rigorous R&D activities being conducted in this region.

This upcoming business intelligence report is intended to be a one-stop market research solution to guide organizations in taking timely and effective decisions for their business growth. The ongoing study is the culmination of our deep expertise on data science methods, combined with an unparalleled understanding of the external environment and analysis of the industries. Each of the reports by TMR aims at offering a detailed scrutiny of the value chain of our current and prospective customers, takes them from identifying value propositions, and subsequently assist their business executives to implement right strategies to create customer value. We believe that creating and sustaining the customer value is the key pivot on which business executives can create profits for their organizations and increase the market shares, continuously and with sustainability.

Each of our touchpoints through which we engage with the organization/enterprise during the primary research enables us to understand the internal environment it operates in and the ways in which the external environment influences its growth.

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Digital Pathology Market: Rising awareness about digital pathology and increase in demand for advanced technology are the factors likely to boost the growth of digital pathology market. Moreover, high incidence and prevalence of cancer and other chronic diseases is poised to escalate the growth of digital pathology market.

Mechanical Ventilators Market: The global mechanical ventilators market is estimated to witness increased sales during forecast period. This increased sales rate is attributed to growing older population and rising cases of respiratory diseases. Mechanical ventilator is an artificial breathing device majorly used for treating patients with severe medical conditions.

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Cancer Genome Sequencing Market: Rising Incidences of Cancer across the Globe to Drive the Market - BioSpace

NEW YORK While the human germline appears to be relatively impervious to acquiring many mutations, some genetic vulnerabilities or paternal exposure to chemotherapy can prompt pronounced de novo mutations, new research has found.

"Our results suggest that the germline is well protected from mutagenic effects, hypermutation is rare, the number of excess mutations is relatively modest, and most individuals with a hypermutated genome will not have a genetic disease," senior author Matthew Hurles, a researcher at the Wellcome Sanger Institute, and his colleagues wrote in Nature on Wednesday.

Following prior studies in mice with specific DNA repair mutations or mutagenic exposures, the team set out to search for signs of hypermutation in the human germline, where far less is known about individuals at the high end of the germline mutation spectrum.

Using exome or whole-genome sequence data for nearly 21,900 parent-child sets from the 100,000 Genomes Project or the Deciphering Developmental Disorders project including families with children suspected of having rare genetic conditions the researchers found a dozen participants who had up to seven times as many de novo single-base mutations in their germline than the median of other individuals.

In nine of the 12 individuals, the team traced the hypermutation back to their fathers. In some families, individuals carried damaging alterations affecting DNA repair genes, while others had germline mutation signatures linked to platinum-based chemotherapy, including children born to fathers who went through cancer treatment prior to conceiving children.

When the investigators explored the latter results further using data for dozens of parents from the 100,000 Genomes Project who had a history of cancer treatment, they found germline hypermutation in children born to two of 27 fathers treated for cancer. They also detected a nominal increase in de novo single-nucleotide changes in children born to mothers with a cancer treatment history, though the women also tended to be older than unaffected mothers when their children were born.

Among other implications, the results suggest that there may be a benefit for male cancer patients to preserve sperm prior to chemotherapy treatment, particularly for men who wish to have children in the future. At the moment, measures are typically offered to protect against chemotherapy-related infertility.

"Clinically, patients receiving chemotherapy who might want to go on to have children in the future are often offered the opportunity to freeze sperm prior to treatment as part of standard of care in the UK," Hurles explained in an email, adding that "it is not just cancer patients that receive mutagenic chemotherapies; these drugs are also given for non-cancer conditions, for example for immune suppression in some auto-immune disorders."

Although the evidence available so far suggests that the germline "generally appears to be well protected from large increases in mutation rate," the authors wrote, Hurles and his colleagues called for additional studies that include individuals exposed to a broader set of potential mutagens, and their family members, to find more modest germline mutation signatures and ties between genes and other environment factors.

"I anticipate that the publication of our study will trigger a range of future studies looking into the germline effects of a range of mutagens, including many chemotherapies," Hurles wrote. "I also think that more studies will identify genetic causes of hypermutation, and through these studies, we will learn more about the differences between the soma and the germline in terms of how mutations are minimized."

Originally posted here:
Most People With Hypermutated Genome Obtain Excess Mutations from Father, Study Finds - GenomeWeb

Researchers at EMBL Heidelberg found that inversions in the human genome are more common than previously thought, which impacts our understanding of certain genetic diseases.

Our DNA serves as a blueprint for the cellular machinery that allows cells, organs, and even whole organisms to work. However, mutations in our DNA can cause genetic illnesses. Point mutations at a single site, as well as deletions, duplications, and inversions, are examples of such DNA mutations.

Inversion refers to a piece of DNA inverting its orientation in the genome. Because inversions are more difficult to analyze than other forms of mutations, they are poorly understood. Scientists from EMBL Heidelberg, working with colleagues from the University of Washington in the United States and Heinrich Heine University Dsseldorf in Germany, have determined that inversions are one of the most common mutational processes in humans.

The researchers uncovered how inversions are formed and investigated in detail a set of 40 inversions that form recurrently in the genome, where the DNA sequence flips back and forth. These flip-flopping inversions typically lie in regions linked to the development of certain human diseases called genomic disorders.

We found that inversions form at a much higher rate than previously thought. In humans, at least 0.6% of the genome repeatedly changes direction, making inversion one of the fastest mutational processes in humans, said Jan Korbel, EMBL Senior Scientist and Head of Data Science. At these sites, the genome is not stable the direction of the DNA code continues to switch back and forth.

These unstable areas are home to the many essential human genes. Scientific studies of long-distance gene regulation or epigenetics must now take into account this flipping behavior of genomic regions.

Artistic interpretation of inversions in the human genome. Credit: Isabel Romero Calvo/EMBL

Inversions are also relevant for the development of human diseases, such as developmental delays in children or neuropsychiatric disorders in adults. Despite their importance, these regions have been very difficult to study before because of their complexity. Showing that these inversions indeed flip-flop back and forth required a new set of computational methods, said Tobias Marschall, Director of the Institute of Medical Biometry and Bioinformatics and the Heinrich Heine University Dsseldorf. We can now provide human geneticists with a new tool to understand the origin of disease in their patients.

Evan Eichler, group leader at the University of Washington, said: We showed for the first time that inversions can be associated with rare genomic rearrangements found in pediatric autism, developmental delay, and epilepsy. The question now is why? We hypothesize that certain configurations at the flanks of the inversions either predispose or protect individuals and their offspring from disease-associated rearrangements. This could have a practical application in the clinic, where it could be used to identify families at risk for developing these disorders.

Reference: Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders by David Porubsky, Wolfram Hps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David S. Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Human Genome Structural Variation Consortium (HGSVC), Charles Lee, Francesca Antonacci, Matthias Steinrcken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler and Jan O. Korbel, 6 May 2022, Cell.DOI: 10.1016/j.cell.2022.04.017

Read more here:
Horrifying Discovery: Scientists Find That DNA Mutations Are More Common Than Previously Thought - SciTechDaily

Excision BioTherapeutics

SAN FRANCISCO, May 17, 2022 (GLOBE NEWSWIRE) -- Excision BioTherapeutics Inc., a biotechnology company developing CRISPR-based therapies intended to cure viral infectious diseases, today announced that preclinical and bioinformatic data showing robust and specific editing of HIV proviral DNA with EBT-101 will be featured in an upcoming poster presentation at the American Society of Gene & Cell Therapy (ASGCT) 25th Annual Meeting, which is taking place at the Walter E. Washington Convention Center in Washington, D.C.

EBT-101 is a unique, clinical-stage, in vivo CRISPR-based therapeutic designed to functionally cure HIV infections after a single intravenous infusion. It employs an adeno-associated virus (AAV) to deliver CRISPR-Cas9 and dual guide RNAs targeting three sites within the HIV genome. Bioinformatic analyses featured in the ASGCT poster compare these EBT-101 target sites against the human reference genome and show no identical matches. Moreover, there are no candidate off-target sites in the human reference genome with only one or two differences from EBT-101 target sites, and only a single candidate off-target site with three differences. These findings predict a lack of off-target activity for EBT-101, which has been confirmed by in vitro and in vivo studies showing HIV excision without unintended editing.

Taken together, the data being presented at ASGCT highlight the key advantages of Excisions novel therapeutic approach, said TJ Cradick, Ph.D., Chief Scientific Officer of Excision and lead author on the poster. By leveraging our in-silico design platform, we carefully crafted EBT-101 to minimize viral escape and off-target effects by cutting at three target sites that are specific to the HIV genome. Latent viral reservoirs were eradicated in in multiple disease models and resulted in functional cures in transgenic mice. We are now working to build on these results through the advancement of EBT-101s recently initiated Phase 1/2 clinical trial, and look forward to discussing our program with the scientific community at the upcoming ASGCT meeting.

Story continues

The ASGCT poster, entitled, EBT-101 achieves robust CRISPR-based editing of HIV proviral DNA without detectable off-target effects, will be presented today from 5:30 6:30 PM ET during the Hematologic and Immunologic Disease II poster session (Board No. TU-205). The poster was authored in collaboration with researchers from institutions including Temple University and Dartmouth-Hitchcock Medical Center. A copy of the poster will be posted to the Excisions website following its presentation at the meeting.

About EBT-101

EBT-101 is a unique, in vivo CRISPR-based therapeutic designed to functionally cure HIV infections after a single intravenous infusion. It employs an adeno-associated virus (AAV) to deliver CRISPR-Cas9 and dual guide RNAs targeting three sites within the HIV genome. This novel approach enables the excision of large portions of the HIV genome, thereby minimizing potential viral escape. EBT-101 is being evaluated in clinical trials and is the only therapeutic candidate in history to achieve functional cures of HIV in animal models.

About Excision BioTherapeutics, Inc.

Excision BioTherapeutics, Inc. is a biotechnology company developing CRISPR-based therapies as potential cures for viral infectious diseases. Excision unites next-generation CRISPR nucleases with a novel gene editing approach and has become the first and only company in history to cure HIV with a therapeutic in an animal model. EBT-101, the companys lead program intended to cure HIV with a single IV infusion, is being evaluated in clinical trials. Excisions pipeline includes one-time potential cures for Herpes Virus, JC Virus, which causes PML, and Hepatitis B virus. The Companys foundational technologies were developed in the laboratories of Dr. Kamel Khalili at Temple University and Dr. Jennifer Doudna at University of California, Berkeley. For more information, please visit http://www.excision.bio.

Contacts:

InvestorsJohn FrauncesLifeSci Advisors917-355-2395jfraunces@lifesciadvisors.com

MediaRobert Flamm, Ph.D.Burns McClellan, Inc.212-213-0006 ext. 316 / 364rflamm@burnsmc.com

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Excision BioTherapeutics to Present Preclinical and Bioinformatic Data Showing Robust and Specific Editing of HIV Proviral DNA with EBT-101 at the...

SAN FRANCISCO - May 16, 2022 - (

)

The Ministry of the Economy launches a strategic initiative aimed at assessing the Luxembourg start-up ecosystem in order to identify further steps to bring the ecosystem towards a next level of development over the upcoming years.

The Luxembourg start-up ecosystem has been on a constant rise over the past decade. In its latest mapping (www.startupluxembourg.com/why-luxembourg/ecosystem-mapping), Luxinnovation, the Luxembourg's national innovation agency, identified more than 500 start-ups active in developing and offering innovative digital and data driven solutions, mostly in the key fields of economic diversification.

Luxembourg has an established history of empowering innovators, entrepreneurs, and investors to implement their vision and contribute to economic diversity through regional and globally competitive enterprises.Given Luxembourg's central position in the European single market, highly advanced legislative and regulatory frameworks and competitive digital infrastructure, the start-up ecosystem attracts innovative professionals and start-up companies from all over the world.

In order to gain a more granular view of the Luxembourg start-up ecosystem and its international positioning, an assessment and a benchmarking will start in May. This assessment and benchmarking will provide a thorough qualitative and quantitative understanding of the Luxembourg start-up ecosystem, based on data analysis, information gathered from the start-up community and interviews with key stakeholders. The study will provide relevant comparisons with international peers, highlighting potential future development opportunities as well as ecosystem success factor strengths and gaps.

Startup Genome, a leading research and policy advisory organization specialized in the analysis of start-up ecosystems was chosen to carry out this assessment and benchmarking in close collaboration with the dedicated team at the Ministry of the Economy and at Luxinnovation. In this process, Startup Genome will leverage its experience of over 200 ecosystems worldwide and the knowledge and data gathered through its yearlyGlobal Startup Ecosystem Report (GSER).

Within the context of the study and in order to collect the feedback from the start-up community, Startup Genome will reach out to entrepreneurs with a dedicated survey. Start-ups and entrepreneurs willing to take the survey and give their input can find more information on http://www.startupluxembourg.com.

The results of the study as well as a consultation process with key stakeholders of the ecosystem will be taken into account for the elaboration of a strategic roadmap for the further development of the Luxembourg start-up ecosystem.

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Startup Genome and the Ministry of the Economy Launch a Study to Assess and Benchmark the Luxembourg Star - Benzinga

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Android app deals of the day: EZ Voice Notes, Jumanji, Galaxy Genome, and more - 9to5Toys

Indore (Madhya Pradesh)

Even after being the worst hit by Covid-19, Indore will have to wait for more to get the genome sequencing machine as the government has decided to get the machine installed in Hamidia Hospital, Bhopal first.

The decision has surprised the city officials as Bhopal already has the facility of genome sequencing at the All India Institute of Medical Sciences (AIIMS).At present, samples of Covid-19 patients in Indore are being sent to National Centre for Disease Control (NCDC), Delhi and AIIMS, Bhopal for genome sequencing to know about the variant of the prevalent coronavirus.

The Centre has allotted five genome-sequencing machines to the state in December 2021 on the ground that the samples collected in Madhya Pradesh for Covid testing were sent to Delhi for genome sequencing, and it took 10 to 15 days to get reports.

These five machines were to be installed in Bhopal, Indore, Jabalpur, Rewa and Gwalior cities. These machines considerably help shorten the detection time of variants.

MGM Medical College was supposed to deposit the funds for the machine but it couldnt be done due to lack of funds. Now, the machine will be installed in Hamidia Hospital and MGM Medical College, Indore will have to wait for more for the machine, sources said.

However, the MGM Medical College administration believes to get the machine in the next phase.

We have also applied with the government for the genome sequencing machine to be installed in MGM Medical College. We believe that we will get the machine soon, Dean of MGM Medical College Dr Sanjay Dixit said.

Indore was the worst hit by Covid-19 but gets variant reports in 15-20 days

Indore was the worst hit by Covid-19 and adds the highest number of cases in the states tally.

As many as 207951 cases were found positive in the city and as many as 1461 patients lost their lives. As many as nine cases of Omicron were also tested positive in Indore but the samples were tested by a private laboratory.

Read more from the original source:
Indore: Even after being the worst hit by Covid-19, no end to Indores wait for a genome sequencing machine - Free Press Journal

Bionano Genomics

For the first time at this conference, Bionano will exhibit all of its cytogenetic research solutions: OGM solutions, NxClinical software and laboratory services

In a dedicated OGM scientific session, six presentations will illustrate the application of Bionanos OGM in prenatal and postnatal testing, constitutional disease, and cancer

Dr. Soheil Shams, chief informatics officer of Bionano, will present a scientific session on Analytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using Cytogenomic Scar Markers

Dr. Alex Hastie, vice president of clinical affairs at Bionano, will host a sponsored vendor presentation on integrating OGM and next generation sequencing (NGS) for a comprehensive analysis of the genome

Following the conference, Bionano will host a user spotlight event at an OGM center of excellence at the Georgia Esoteric Molecular Laboratory at Augusta University

SAN DIEGO, May 13, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr system and provider of NxClinical software, the leading solution for visualization, interpretation and reporting of genomic data, today announced that it is participating in-person at the American Cytogenomics Conference (ACC). In addition to having six presentations that highlight the application of OGM in clinical genetics research, Bionano will host a user spotlight event at Augusta University, a center of excellence for OGM.

ACC is a biennial conference that brings together industry and academic professionals to discuss new technologies and advances in the field of cytogenetics. ACC sessions will take place May 15-18, 2022, in Hilton Head, South Carolina. Bionano will exhibit its complete portfolio of products and services relevant to the cytogenetics research community for the first time, including OGM solutions, NxClinical software and laboratory services. Multiple attendees from both Bionanos scientific and commercial teams will participate in the conference.

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Dr. Solheil Shams, chief informatics officer at Bionano, will present on the utilization of three new measures of genomic instability available in NxClinical v6.2 software to detect homologous recombination repair deficiency (HRD) in solid tumors. In a spotlight talk immediately following the OGM scientific session, Dr. Alex Hastie, Bionanos vice president of clinical affairs, will present examples of research where OGM may complement next generation sequencing (NGS) to potentially provide a more comprehensive analysis of the genome, for applications in genetic disease and cancer.

At the conclusion of ACC, Bionano will host an interactive tour of an OGM center of excellence at the Georgia Esoteric Molecular Laboratory at Augusta University, where Dr. Ravindra Kohle will demonstrate an OGM workflow and provide a tutorial on data interpretation for chromosomal aberrations.

Scientific presentations and poster sessions from Bionano and collaborators include:

Title

Presenters/Authors

Presented

Analytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using Cytogenomic Scar Markers

Shams S

May 16, 2022 8:30-8:45 AM

Comparative Benchmarking of Optical Genome Mapping to Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and additional Structural Variant Refinement

Pang AWC, Barseghyan H, Chaubey A, Hastie A

May 16, 202210:30-10:45 AM

Optical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders Results of Multi-Institutional Validation Study of 331 Retrospective Clinical Samples

Iqbal M, Broeckel U, Levy B, Skinner S, Sahajpal N,Rodriguez V, Stence A, Awayda K, Scharer G, Skinner C, Stevenson R, Bossler A, Nagy P, Kolhe R

May 16, 202210:45-11:00 AM

Optical Genome Mapping for Prenatal Diagnostic Testing

Sahajpal N, Mondal A, Fee T, Hastie A, Chaubey A, DuPont B, Kohle R

May 16, 202211:00-11:15 AM

Optical Genome Mapping Analysis of FMR1 Expansions in Fragile X Syndrome

Barseghyan H, Muggli M, Ramandi B, Miller N, Zhang D, Lam E, Wang J, Wang T, Lee J, Pang AWC, Sadowski H, Hastie A, Oldakowski M

May 16, 202211:15-11:30 AM

Optical Genome Mapping Workflow for Identification and Annotation of Variants in Hematological Malignancy

Clifford B, Hauenstain J, Pang AWC, Chaubey A, Hastie A

May 16, 202211:30-11:45 AM

Capture-Based Transcriptome Sequencing (RNA-Seq) and Optical Genome Mapping (OGM) Enhance Detection of Newly Described Molecular Subtypes of Pediatric B-lymphoblastic Leukemia (B-ALL)

Raca G, Kovach A, Doan A, Ostrow D, Yellapantula V, Ji J, Schmidt R, Biegel J, Bhojwani D

May 16, 202211:45 AM-12:00 PM

Find More Answers: Integrating NGS and OGM for a Comprehensive Analysis of the Genome

Hastie A

May 16, 2022 12:00-12:30 PM

GDA-Cyto: Infinum Arrays Propel Cytogenomics Laboratories to New Heights

Saul D, Hagan J

May 16, 2022 12:30-1:45 PM

All presentations and poster sessions will be held in the Santee Ballroom, rooms E-H. The presentations will be made available on the Bionano Genomics website once presented at the conference. More details on ACC can be found here.

The lineup of content that will be presented on Bionanos solutions at ACC this year is world class. What makes our participation unique this year, is that we will have the combination of OGM products and our NxClinical software for attendees to view. We are focused on addressing their needs and now we can show them how, in person. After the show, we will be hosted at Augusta University where several scientists and cytogeneticists will join us for a hands-on experience of the journey that Dr. Ravi Kohles lab has taken to become an OGM center of excellence, said Erik Holmlin, PhD, president and chief executive officer of Bionano.

About Bionano Genomics

Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Companys mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. Through its BioDiscovery business, the Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. For more information, visit bionanogenomics.com, lineagen.com or biodiscovery.com

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, potentially, and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the potential contribution of our OGM and software solutions in the analysis of genetic diseases and cancer or the use of software solutions for homologous recombination repair deficiency (HRD) detection. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements in existing technologies; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support additional studies, adoption or continued use of our technologies; the ability of our OGM, NxClinical software and laboratory services solutions to offer the anticipated benefits for and contributions to pre and postnatal genomic analysis, cancer research, structural variant analysis as well as other areas of research; future study results contradicting the results reported in the presentations given and posters made available at ACC; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2021 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTS

Company Contact: Erik Holmlin, CEO Bionano Genomics, Inc. +1 (858) 888-7610 eholmlin@bionanogenomics.com

Investor Relations: Amy Conrad Juniper Point +1 (858) 366-3243 amy@juniper-point.com Source: Bionano Genomic

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Bionano Genomics Announces Participation at the 2022 American Cytogenomics Conference (ACC) and a User Spotlight Event at Augusta University, a Center...