Whole Genome Sequencing News and Research

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Researchers discover new genetic cause of rare, complex form of epilepsy

A research team led by scientists at the Scripps Translational Science Institute has used whole genome sequencing to identify a new genetic cause of a severe, rare and complex form of epilepsy that becomes evident in early childhood and can lead to early death.

7 Nov 2014

New study reveals link between aristolochic acid and kidney cancer

A new study on a large cohort of kidney cancer patients in Europe sheds light on the genetic architecture of the disease -- and reveals an apparent link between exposure to aristolochic acid and incidence of kidney cancer, particularly in Romania.

29 Oct 2014

Genetic differences contribute to risk for autism

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium, and published today in the journal Nature.

29 Oct 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

25 Oct 2014

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Using an innovative exome sequencing strategy, a team of international scientists led by John Landers, PhD, at the University of Massachusetts Medical School has shown that TUBA4A, the gene encoding the Tubulin Alpha 4A protein, is associated with familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease.

23 Oct 2014

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego.

21 Oct 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

Three institutions collaborate to study genetics of bipolar disorder, schizophrenia

Researchers at the University of Michigan School of Public Health and Medical School and collaborators at two other institutions will undertake the largest whole genome sequencing study funded to date, as they seek to better understand bipolar disorder and schizophrenia.

30 Sep 2014

Researchers awarded $16 million NIMH grant to create genetic resource for psychiatric disorders

A multi-institutional team of researchers studying schizophrenia and bipolar disorder has been awarded a $16 million grant from the National Institute of Mental Health to create the most extensive genetic resource to date for these two devastating psychiatric disorders, using data assembled by the University of Southern California.

26 Sep 2014

Researchers explore gene expression in normal vestibular nerves, vestibular schwannomas

Researchers from the University of Toronto, directed by Drs. Gelareh Zadeh and Boris Krischek, investigated gene expression in normal vestibular nerves and vestibular schwannomas (VSs).

24 Sep 2014

APOC3 gene variant dramatically reduces triglyceride levels in the blood

Research using data collected from around 4,000 healthy people in the UK has enabled scientists to identify a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood. The study is the first to emerge from the UK10K Project's cohort of samples from the general public and demonstrates the power of whole genome sequencing at scale.

17 Sep 2014

TGen to lead first-in-patient clinical trial studies to test novel drugs for glioblastoma

SIn 2012, The Ben & Catherine Ivy Foundation awarded $10 million in grants for two groundbreaking brain cancer research projects at the Translational Genomics Research Institute. One of those projects has officially received the final regulatory approval from University of California, San Francisco, which means patient enrollment for the trial can begin.

29 Aug 2014

Researchers report that predominant CA-MRSA strain migrated from sub-Saharan Africa

The predominant strain of community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infecting people in Europe, the Middle East and northern Africa derived from a single sub-Saharan ancestor, a team of international researchers reported this week in mBio-, the online open-access journal of the American Society for Microbiology.

26 Aug 2014

Researchers develop new methods to identify genes important for survival of MRSA in pigs

It is important to keep the number of MRSA infections at a low level. In a PhD project at the National Food Institute, Technical University of Denmark, the latest technologies within whole genome sequencing were exploited to develop new methods to identify genes which are important for the survival of MRSA in pigs.

5 Aug 2014

Cypher Genomics, Illumina partner to facilitate development of genomic-based biomarkers

Cypher Genomics, Inc., the genome informatics company, announced today a co-promotion agreement with Illumina to facilitate the development of genomic-based biomarkers from whole genome sequence data for precision medicine and clinical trials.

From Illumina, Inc. 24 Jul 2014

Autism Speaks awards new research grants to advance understanding of autism subtypes

Autism Speaks, the world's leading autism science and advocacy organization, today announced the awarding of three new targeted research grants totaling more than $1 million.

28 Jun 2014

Whole genome sequencing reveals severe intellectual disability in patients

With a new technique, which at once studies the whole genome, a genetic cause can be identified in six out of ten children with severe intellectual disability. This makes the method more successful than all the usual methods together.

5 Jun 2014

Findings have important implications for improving war wound healing

War wounds that heal successfully frequently contain different microbial species from those that heal poorly, according to a paper published ahead of print in the Journal of Clinical Microbiology.

30 May 2014

Research findings can impact lives of people with autism today

A new study from investigators with the Autism Genome Project, the world's largest research project on identifying genes associated with risk for autism, has found that the comprehensive use of copy number variant (CNV) genetic testing offers an important tool in individualized diagnosis and treatment of autism.

25 Apr 2014

Researcher explores public perceptions related to newborn screening programs

While 94 per cent of Canadians surveyed said they would participate in public health programs that screen newborns for a specific number of genetic conditions, only 80 per cent said they would be willing to participate in screening that would sequence their newborns' genomes.

22 Apr 2014