Whole Genome Sequencing News and Research

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Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

International conference showcases breadth of research possible with zebrafish

It's clear where the black-and-white striped zebrafish got its name, but less obvious at first glance is what zebrafish has to do with biomedical research. Amazingly, it has biological similarities to humans, which are making this small freshwater fish an increasingly popular model organism for studying vertebrate development, genetics, physiology, and mechanisms of disease.

23 Jun 2012

Researchers identify genes that cooperate in development of medulloblastoma

St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project lifts lid on the most aggressive subtype of medulloblastoma and finds genes that cooperate in tumor development.

22 Jun 2012

Illumina launches RapidTrack WGS service

Illumina, Inc. today launched the RapidTrack Whole Genome Sequencing Service, a new offering in its FastTrack Sequencing Services operation that delivers a whole human genome in less than two weeks.

From Illumina, Inc. 21 Jun 2012

Next-generation sequencing technologies for the 1,000 Rare Diseases Project

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery of genetic variants underlying rare diseases.

19 Jun 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Nature Genetics publishes results from whole genome-wide study of recurrent HBV integration in HCC

The Asian Cancer Research Group (ACRG)—an independent, not-for-profit company established by Eli Lilly and Company, Merck (known as MSD outside the United States and Canada) and Pfizer Inc.—in collaboration with BGI—the world's largest genomics organization—today announced the publication of results from a whole genome-wide study of recurrent hepatitis B virus (HBV) integration in hepatocellular carcinoma (HCC) in Nature Genetics.

30 May 2012

Science journal’s NEWSFOCUS section describes recent advances in sequencing technology

Rapid DNA sequencing may soon become a routine part of each individual's medical record, providing enormous information previously sequestered in the human genome's 3 billion nucleotide bases. This week's NEWSFOCUS section of the journal Science describes recent advances in sequencing technology.

From Oxford Nanopore Technologies 23 May 2012

Study uncovers distinct subtype of prostate cancer

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical College, the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute.

21 May 2012

Researchers sequence genomes of 21 breast cancers

In two back-to-back reports published online on 17 May in Cell, researchers have sequenced the genomes of 21 breast cancers and analysed the mutations that emerged during the tumours' development. The individual results are described below.

18 May 2012

Nottingham researchers lead largest ever research project into genetics of pre-eclampsia

Researchers from The University of Nottingham are leading the largest ever international research project into the genetics of the potentially fatal condition pre-eclampsia.

17 May 2012

Human iPS cells accrue genetic changes at about the same rate as replicating cells

A team of researchers from Johns Hopkins University and the National Human Genome Research Institute has evaluated the whole genomic sequence of stem cells derived from human bone marrow cells—so-called induced pluripotent stem (iPS) cells—and found that relatively few genetic changes occur during stem cell conversion by an improved method.

30 Apr 2012

Mayo Clinic introduces Breast Cancer Genome Guided Therapy Study

The Breast Cancer Genome Guided Therapy Study (BEAUTY Project) will help physicians tailor chemotherapy to breast cancer patients based on their individual genomes and the genomes of their tumors.

10 Apr 2012

Chemotherapy based on individual genomes and genomes of tumors

The Breast Cancer Genome Guided Therapy Study (BEAUTY Project) will help physicians tailor chemotherapy to breast cancer patients based on their individual genomes and the genomes of their tumors.

9 Apr 2012

Genomic fortune-telling fails to provide informative guidance to most people

With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual's genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.

3 Apr 2012

TGen to present TNBC study at AACR 2012 annual meeting

Because cases of Triple-Negative Breast Cancer (TNBC) are so genetically different, whole-genome sequencing is needed to detect the subtle molecular differences that might point to specific treatments for individual patients.

2 Apr 2012

Scientists use DNA sequencing to identify 'driver' mutations in cancer

Scientists at Washington University School of Medicine in St. Louis are using powerful DNA sequencing technology not only to identify mutations at the root of a patient's tumor - considered key to personalizing cancer treatment - but to map the genetic evolution of disease and monitor response to treatment.

2 Apr 2012

Biobanks should set rules for overall process of recognizing IFs and IRRs

Bioethicists at the Johns Hopkins Berman Institute of Bioethics are co-authors on a consensus article placing "significant responsibility" on biobanks to report individual research results (IRRs) and incidental findings (IFs) to the contributors of genetic material.

22 Mar 2012

Mutated ATRX gene associated with advanced-stage neuroblastoma

Certain mutations of the gene ATRX were associated with age at diagnosis in children and young adults with advanced-stage neuroblastoma, a cancer that grows in parts of the nervous system, according to a study in the March 14 issue of JAMA.

14 Mar 2012