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copy number analysis

The researchers will use Sapientia to analyze samples from 1,000 fetuses as part of efforts to develop an exome-based assay for non-invasive prenatal testing.

The pipeline, called IMPACT, pinpointed genetic variants in lung cancer and melanoma patients and matched them to targeted drugs. 

In Genome Research this week: sequencing approach to detect large CNVs, method to find CRISPR-Cas9 nuclease targets, and more.

Researchers identified prognostically relevant glioma subtypes by incorporating genetic, epigenetic, and protein data for 1,122 diffuse glioma tumors.

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

In PNAS this week: identification of human follicle mite lineages using mtDNA, copy number expansions in cattle NK-lysin gene, and more.

Using a suite of genomic tools, the Cancer Genome Atlas Research Network characterized primary prostate cancers.

Members of TCGA characterized papillary renal cell carcinomas, uncovering two main tumor groups and several more prognostically informative subtypes.

In Science this week: human population copy number analysis, and more.

The method detects somatic copy number alterations in whole-exome datasets without requiring input from users and irrespective of sequencing platform. 

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The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.