Category Archives: Genome

Bit Shifter - hexadecimal Genome
im am back again. quite a long time, but it had to be.

By: DancingZorro

See more here:
Bit Shifter - hexadecimal Genome - Video

Getting Started with Genome Mate
The purpose of this video is to help people get started using Genome Mate. We will be covering just the basic steps to create a profile, import match data an...

By: Genome Mate

Read the original here:
Getting Started with Genome Mate - Video

PUBLIC RELEASE DATE:

9-Feb-2014

Contact: Anne Holden anne.holden@gladstone.ucsf.edu 415-734-2534 Gladstone Institutes

SAN FRANCISCO, CAFebruary 9, 2014Sometimes biology is cruel. Sometimes simply a one-letter change in the human genetic code is the difference between health and a deadly disease. But even though doctors and scientists have long studied disorders caused by these tiny changes, replicating them to study in human stem cells has proven challenging. But now, scientists at the Gladstone Institutes have found a way to efficiently edit the human genome one letter at a timenot only boosting researchers' ability to model human disease, but also paving the way for therapies that cure disease by fixing these so-called 'bugs' in a patient's genetic code.

Led by Gladstone Investigator Bruce Conklin, MD, the research team describes in the latest issue of Nature Methods how they have solved one of science and medicine's most pressing problems: how to efficiently and accurately capture rare genetic mutations that cause diseaseas well as how to fix them. This pioneering technique highlights the type of out-of-the-box thinking that is often critical for scientific success.

"Advances in human genetics have led to the discovery of hundreds of genetic changes linked to disease, but until now we've lacked an efficient means of studying them," explained Dr. Conklin. "To meet this challenge, we must have the capability to engineer the human genome, one letter at a time, with tools that are efficient, robust and accurate. And the method that we outline in our study does just that."

One of the major challenges preventing researchers from efficiently generating and studying these genetic diseases is that they can exist at frequencies as low as 1%, making the task of finding and studying them labor-intensive.

"For our method to work, we needed to find a way to efficiently identify a single mutation among hundreds of normal, healthy cells," explained Gladstone Research Scientist Yuichiro Miyaoka, PhD, the paper's lead author. "So we designed a special fluorescent probe that would distinguish the mutated sequence from the original sequences. We were then able to sort through both sets of sequences and detect mutant cellseven when they made up as little one in every thousand cells. This is a level of sensitivity more than one hundred times greater than traditional methods."

The team then applied these new methods to induced pluripotent stem cells, or iPS cells. These cells, derived from the skin cells of human patients, have the same genetic makeupincluding any potential disease-causing mutationsas the patient. In this case, the research team first used a highly advanced gene-editing technique called TALENs to introduce a specific mutation into the genome. Some gene-editing techniques, while effective at modifying the genetic code, involve the use of genetic markers that then leave a 'scar' on the newly edited genome. These scars can then affect subsequent generations of cells, complicating future analysis. Athough TALENs, and other similarly advanced tools, are able to make a clean, scarless single letter edits, these edits are very rare, so that new technique from the Conklin lab is needed.

"Our method provides a novel way to capture and amplify specific mutations that are normally exceedingly rare," said Dr. Conklin. "Our high-efficiency, high-fidelity method could very well be the basis for the next phase of human genetics research."

Read the original post:
Genome editing goes hi-fi

Fact or Fiction: The Human Genome Project
Was the entire Human Genome project was mapped in Cambridge, Massachusetts? Add some 90 #39;s nostalgia and tune in for this week #39;s Fact or Fiction!

By: cambridgehistorical

Read the original here:
Fact or Fiction: The Human Genome Project - Video

Moving tracks in the SoyBase genome viewer
Tutorial describes how to move tracks in the SoyBase genome viewer. Demonstrates how to move tracks up and down to make comparisons easier.

By: SoyBaseTutorials

Go here to see the original:
Moving tracks in the SoyBase genome viewer - Video

osu! tsunamaru - Orange Genome [gudbye] + DT + HD
Beatmap: http://osu.ppy.sh/b/218944 Played by: Mary Ann Profile: http://osu.ppy.sh/u/1500758.

By: Mary Ann

Follow this link:
osu! tsunamaru - Orange Genome [gudbye] + DT + HD - Video

genome paper castle
I learned how to use text in videos. This is me just messin #39; around, writing music, answering important phone calls and eating food. It #39;s ridiculous. Enjoy.

By: Cuba Luna

See the article here:
genome paper castle - Video

February 3, 2014

Researchers identified genes and pathways that are disrupted in a major form of bladder cancer. The study also revealed subtypes that resemble other cancers at a molecular level, implying similar routes of development. The findings suggest potential new therapeutic targets.

Bladder canceralso known as urothelial carcinomais expected to cause more than 15,000 deaths in the United States in 2014. About 72,000 new cases will be diagnosed this year as well.

Bladder cancer that invades the muscle of the bladder is the deadliest form of the disease. Standard treatments for muscle-invasive bladder cancer include surgery and radiation combined with chemotherapy. There are no recognized follow-up treatments if the initial therapy doesnt work.

To gain a better understanding of this cancer, investigators in The Cancer Genome Atlas (TCGA) Research Network undertook a comprehensive genomic analysis of 131 muscle-invasive bladder carcinomas from patients who hadnt yet been treated. The researchers analyzed DNA, RNA, and protein data. TCGA is supported by NIHs National Cancer Institute (NCI) and National Human Genome Research Institute (NHGRI). The study appeared online on January 29, 2014, in Nature.

The scientists found recurrent mutations in 32 genes, including 9 that werent previously reported to be significantly mutated in any cancer. They identified mutations in the TP53 gene in nearly half the tumor samples. TP53 codes for the p53 tumor suppressor protein, which helps regulate cell division. The RTK/RAS pathway, which is involved in regulating cell growth and developmentand is affected in many cancerswas altered in 44% of the tumors analyzed.

Genes that regulate chromatinthe DNA/protein structure that determines how genes are expressedwere more frequently mutated in bladder cancer than in any other common cancer studied to date. These findings suggest the possibility of developing therapies that target chromatin remodeling.

The researchers identified potential drug targets in 69% of the tumors evaluated. Of note were frequent mutations in the ERBB2, or HER2, gene. HER2 has been implicated in a significant portion of breast cancers. New therapeutic agents under development against breast cancer thus might be effective in treating certain bladder cancers.

The scientists uncovered a potential viral connection to bladder cancer as well. DNA from virusesnotably, from HPV16, a form of the virus responsible for cervical cancerwas found in a small number of bladder tumors. This suggests that viral infection may contribute to the development of bladder cancer.

Here is the original post:
Genome Study Yields Insights Into Bladder Cancer - NIH ...

Ancient Origins seeks to uncover, what we believe, is one of the most important pieces of knowledge we can acquire as human beings our beginnings.

While many believe that we already hold such knowledge, our view is that there still exists a multitude of anomalies and mysteries in humanity's past that deserve further examination.

We therefore wish to foster an open community that is dedicated to investigating, understanding and explaining the origins of our species on planet earth. To this end, we aim to organize, support and even finance efforts in this direction.

Our aim is to move beyond theories and to present a thorough examination of current research and evidence and to offer alternative viewpoints and explanations to those currently held by mainstream science and archaeology.

Come with us on a journey to explore lost civilisations, sacred writings, ancient places, unexplained artefacts and scientific mysteries while we seek to reconstruct and retell the story of our beginnings.

Go here to see the original:
Entire Neanderthal genome finally mapped with amazing ...

Current ratings for: Whole-genome testing helps identify treatments for breast cancer

Public / Patient:

0 (0 votes)

Health Professionals:

0 (0 votes)

A study testing all the DNA in the genome of cancer cells - the first of its kind - has identified individuals that may benefit from new treatments currently being tested in clinical trials.

Metastatic cancer - cancer that has spread from the region of the body where it first started, to other areas - is generally regarded as being incurable. In 2013, 39,620 women died from metastatic breast cancer in the US.

Progress in developing effective new chemotherapy or hormonal therapies for metastatic cancer has been slow, though there have been developments in therapies targeting specific genetic mutations in breast cancer.

"Until now genetic testing has only analyzed a limited number of genes to select which targeted drugs are suitable for individual patients and many treatment opportunities may be missed," explains Prof. Fabrice Andr from the Institute Gustave Roussy in France, whose study is published in The Lancet Oncology.

Prof. Andr and team think that this targeting of specific mutations or DNA copy numbers in breast cancer could shape how clinical trials - and ultimately new drugs - are designed.

Link:
Whole-genome testing helps identify treatments for breast cancer