NEW YORK (GenomeWeb) – Researchers from the Informatics and Biocomputing arm of the Ontario Institute for Cancer Research and elsewhere have published an algorithm that they claim can distinguish between somatic and germline single nucleotide variants in next-generation sequencing data from tumor tissue in the absence of normal controls.

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NPR reports that with medical data being big business, some companies want to get patients involved.

The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

In PNAS this week: optical mapping allows glimpse of structural variants, disease-linked GATA2 mutations boosts its protein activity, and more.

Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.

Nov
05
Sponsored by
Sophia Genetics

With the Next Generation Sequencing (NGS), genomes sequencing has been democratized over the last decades with the detection of genomic alterations, thus replacing Sanger sequencing.