Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order […]
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Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze large numbers of variants from multiple exomes to identify causal alleles associated with inherited conditions. A […]
from VentureBeat by Christina Farr AUSTIN, Texas – 23andMe‘s chief executive Anne Wojcicki kicks off her stilettos and sinks into a couch. Minutes into our interview, it’s clear that Wojcicki is exhausted. After months of relative radio silence, she’s back in the game with a keynote at Austin’s tech festival, South by South West Interactive, and a grueling schedule […]
SAN DIEGO & SHANGHAI–(BUSINESS WIRE)–Mar. 10, 2014– Illumina, Inc. (NASDAQ:ILMN) and WuXi PharmaTech (Cayman) Inc. (NYSE:WX), a leading pharmaceutical, biotechnology, and medical device R&D outsourcing company with operations in China and the United States, today announced that the WuXi Genome Center has purchased an Illumina HiSeq X Ten sequencing system. This new investment will enable […]
Although the time and cost of sequencing an entire human genome has plummeted, analyzing the resulting three billion base pairs of genetic information from a single genome can take many months. In the journal Bioinformatics, however, a University of Chicago-based team—working with Beagle, one of the world’s fastest supercomputers devoted to life sciences—reports that genome […]
Targeted enrichment sequencing by Next Generation Sequencing (NGS) is a common approach to interrogate specific loci or the whole exome in the human genome. The efficiency and the lack of bias in the enrichment process needs to be assessed as a quality control step prior to perform downstream analysis of the sequence data. Tools that […]