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.”

The New York City medical examiner is overseeing an effort to identify missing persons using DNA, according to the Associated Press.

Nobel laureate Günter Blobel has died at 81, the New York Times reports.

In PNAS this week: mouse model of genetically induced emphysema, gene expression signatures of circulating melanoma cells, and more.

Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.