exome capture | GenomeWeb

exome capture

Many genes are poorly covered or not covered at all by exome sequencing, which could lead to false negatives in clinically relevant genes.

NEW YORK (GenomeWeb News) – A Memorial Sloan-Kettering Cancer Center-led team has taken an exome- and genome-sequencing centered look at the mutations that may be found in the salivary gland cancer adenoid cystic carcinoma, or ACC.

NEW YORK (GenomeWeb News) – Two studies published this week are offering a look at the genetics behind meningioma, a type of primary central nervous system tumor.

NEW YORK (GenomeWeb News) – Elevated schizophrenia risk appears to stem from a preponderance of deleterious de novo mutations, including recurrent mutations to a handful of potential risk genes, according to an exome sequencing study appearing online today in Nature Genetics.

By a GenomeWeb staff reporter
NEW YORK (GenomeWeb News) – Cofactor Genomics and Intrepid Bioinformatics have partnered to integrate their offerings for analyzing cow genome data, St. Louis-based Cofactor said today.

By a GenomeWeb staff reporter
NEW YORK (GenomeWeb News) – Caliper Life Sciences announced today a deal with the Center for Genome Analysis at Yale University to implement protocols for exome capture and library preparation workflows.

The University of Washington team reported on a hybrid assembly that combines mapping to a reference genome with local de novo assembly. The study was presented during this month's Biology of Genomes meeting in Cold Spring Harbor, NY.

So far, the Broad Institute has used the v2 kit to sequence the exomes of more than 5,100 human samples "from a variety of cancer and heritable disease studies."

The center will use both NimbleGen's SeqCap EZ Exome and customized NimbleGen exome designs, according to the company, and has established a pipeline for high-throughput exome capture and sequencing “with multiple next-generation sequencing platforms.”

Harold Varmus, a former NIH director, says that proposed reductions to the agency's budget are worrisome.

The Genome 10K project is to sequence about 10,000 vertebrate genomes, including ones of endangered species, Digital Trends reports.

The new Coalition to Save NIH Funding aims to educate lawmakers and the public on the significance of biomedical research.

In PLOS this week: analysis of viral sequences from human blood samples, gut microbiomes of heart failure patients, and more.