Exome Sequencing News and Research

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MMRF hails new publication of multiple myeloma genome analysis in Nature journal

The Multiple Myeloma Research Foundation today hailed a new publication in Nature as a major step forward in the organization's efforts to advance a personalized medicine approach in multiple myeloma.

24 Mar 2011

RainDance Technologies launches ASDSeq and XSeq Research Screening Panels

RainDance Technologies, Inc., today announced the commercial availability of the ASDSeq™ and XSeq™ Research Screening Panels. Developed in collaboration with Emory University and Greenwood Genetic Center, the two comprehensive panels enable researchers to simultaneously interrogate key genes known to be linked to X-chromosome disorders and syndromic forms of Autism Spectrum Disorder (ASD) using next-generation sequencing.

18 Mar 2011

Patients with high blood pressure have benign endocrine tumours in adrenal gland: Research

High blood pressure may in some cases be caused by benign hormone-producing tumours of the adrenal cortex. A joint Swedish-American research effort has now uncovered a genetic cause behind the occurrence of such tumours. The findings were published today in the journal Science.

11 Feb 2011

UM researchers find genetic cause of retinitis pigmentosa

Researchers led by geneticists at the University of Miami Miller School of Medicine have identified a new gene that causes retinitis pigmentosa, a form of blindness, ending one South Florida family's nearly 20-year search for what caused three of their four children to lose their sight.

4 Feb 2011

NuGEN, Caliper enter co-marketing agreement in next generation sequencing sample preparation methods

NuGEN Technologies, Inc. and Caliper Life Sciences, Inc. today announced a co-marketing agreement for the development of automated methods for next generation sequencing sample preparation on Caliper's Sciclone® NGS Workstation.

27 Jan 2011

DNAVision purchases 4 of Life Technologies' NGS platforms

DNAVision, one of European leading genetic analysis service providers, is pleased to announce the purchase of four next-generation sequencing platforms from Life Technologies, including two latest 5500xl SOLiD™ Systems.

13 Jan 2011

Illumina announces next generation of iSelect custom genotyping products

Illumina, Inc. today announced its next generation of iSelect custom genotyping products that allow researchers to design custom arrays containing from 3,000 up to 1,000,000 markers, with the flexibility to add supplemental content to their array designs.

From Illumina, Inc. 10 Jan 2011

Genetic sequencing may serve as new diagnostic tool for unknown disease

A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.

21 Dec 2010

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

A genetic testing approach called exome sequencing—which provides a clinically practical alternative to whole-genome sequencing—led to correct diagnosis and life-saving treatment in a child with a previously unknown genetic disease, reports an upcoming paper in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

21 Dec 2010

Ambry Genetics announces launch of Illumina HiSeq 2000 Next Generation Sequencing Services

Ambry Genetics, a global leader in genomic services to the healthcare and life sciences industries, announced today that it has officially launched their Illumina HiSeq 2000 Next Generation Sequencing Services. Ambry Genetics has been an early adapter of Illumina sequencing systems since 2007 and has extensive experience as a Certified Service Provider.

10 Dec 2010

VCP gene causes some instances of familial ALS: Researchers

Using a new gene sequencing method, a team of researchers led by scientists from Johns Hopkins and the National Institutes of Health has discovered a gene that appears to cause some instances of familial amyotrophic lateral sclerosis. The finding could lead to novel ways to treat the more common form of this fatal neurodegenerative disease, which kills the vast majority of the nearly 6,000 Americans diagnosed with ALS every year.

10 Dec 2010

Knome announces winners of KnomeDISCOVERY Awards

Knome, Inc. today announced the winners of its inaugural KnomeDISCOVERY Awards, a program designed to spur new genetic insights into health.

6 Oct 2010

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

BCM collaborates with Roche NimbleGen for high throughput exome capture technology

The Baylor College of Medicine Human Genome Sequencing Center has standardized its target enrichment human disease research studies on Roche NimbleGen Sequence Capture Exome technology. The Baylor HGSC will sequence over 5,000 exomes in the next two years to identify genetic variants underlying multiple human diseases and will employ NimbleGen SeqCap EZ Exome and customized NimbleGen exome designs as the exome capture technology of choice. More than 15 different diseases will be investigated by Baylor HGSC, including brain, liver, pancreatic, colon, ovarian and bladder cancers, heart disease, diabetes, autism, and other inherited diseases with the goal of better understanding causative mutations and their impact on these diseases.

4 Aug 2010

Researchers validate effectiveness of genome sequencing process for hereditary genetic diseases

A research team led by Dr. Nada Jabado at the MUHC Research Institute and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable exome sequencing method. The exome, a small part of the genome ((less than) 2%), is of crucial interest with regard to research on genetic diseases as it accounts for 85% of mutations.

10 Jun 2010

DNA capture techniques enable sequencing of ancient Neandertal DNA

Researchers from the Max Planck Institute (MPI), Cold Spring Harbor Laboratory (CSHL), Agilent Technologies Inc., and other prestigious institutions worldwide have shown that DNA capture techniques can greatly enable the sequencing of ancient Neandertal DNA, providing new insight into the nature of these prehistoric hominids.

7 May 2010

Targeted sequencing of exome can help identify potential disease-causing genes

Researchers from University of Miami Miller School of Medicine and Roche Applied Science have recently published a research study on human exome resequencing results from eight individuals that span across three generations of a family. The findings of this study showcased the value of targeted enrichment for family-based studies which allows researchers to quickly identify potential disease-causing genetic variants and will provide the data and information for further research to better understand disease and the impact across generations of a family.

29 Jan 2010

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.

18 Jan 2010

Scientists use exome sequencing method to discover the cause of mendelian disorder

For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.

20 Nov 2009

Fully integrated human genome sequencing and data processing service launched

Knome, Inc., a recognized pioneer in the personal genomics field, today announced the launch of KnomeDISCOVERY, the first fully integrated human genome sequencing and data processing service for researchers. The new offering meets rapidly emerging demand from biomedical researchers for a one-stop service that bundles affordable, research-tailored access to a broad range of next-generation sequencing platforms with discovery-supportive data management and analysis.

18 Nov 2009