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mutation detection

In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.

Investigators have established hundreds of patient-derived xenografts, cell lines, and tumor samples, which appear to represent a wide range of melanoma molecular subtypes.

By sequencing Vibrio cholerae isolates from Africa and Latin America, investigators got a look at the lineages leading to outbreaks over several decades.

An analysis of new and available liver cancer genomes led to 10 mutational signatures and six structural rearrangement signatures in hepatocellular carcinoma.

Alterations affecting the antigen presentation-related gene B2M appeared to be over-represented in melanomas with checkpoint blockade non-response or resistance.

Investigators saw muted negative selection against mutations in genomic data for more than 7,600 tumors, while mining positive selection patterns for cancer driver clues.

Using sequences from hepatocellular carcinomas in Asia, researchers identified numerous cases with mutation signatures linked to aristolochic acid exposure.

Exome sequences for thousands of people revealed rare, inherited mutations and de novo mutations in a significant subset of congenital heart disease cases. 

With exome and/or RNA sequences for dozens of insulinomas, researchers saw epigenetic, development, and other pathways prompting insulin-producing cell expansion.

Many molecularly distinct subgroups emerged from a meta-analysis bringing together more than 1,000 high-grade glioma or diffuse intrinsic pontine glioma cases.

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Researchers uncovered the HIV virus within a tissue sample collected in 1966, the Atlantic reports.

Nature News reports there are a handful of clinical trials underway to evaluate vaginal microbiome seeding of newborns born via caesarian section.

The Washington Post writes that humans may have contributed to the extinction of cave bears some 20,000 years ago.

In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.