Exome Sequencing News and Research

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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

Agilent Technologies introduces SureSelect Human All Exon Kit

Agilent Technologies Inc. (NYSE:A) has chosen the Cambridge Health Institute’s Next-Generation Sequencing Analysis conference today to introduce its SureSelect Human All Exon Kit for target enrichment prior to next-generation DNA sequencing.

23 Sep 2009

Novel genome-analysis strategy to speed search for gene-disease links

University of Washington (UW) researchers have successfully developed a novel genome-analysis strategy for more rapid, lower cost discovery of possible gene-disease links. By saving time and lowering expenses, the approach makes it feasible for scientists to search for disease-causing genes in people with the same inherited disorder but without any family ties to each other.

18 Aug 2009