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mutation detection

A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.

With exome sequences from more than 600 metastatic breast tumors, researchers identified genomic alterations related to tumor progression, treatment response, and patient outcomes.

Using exome or transcriptome data from more than 400 metastatic, castration-resistant prostate cancer cases, researchers identified survival-related alterations in the RB1 gene.

Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.

Whole-genome sequencing on 62 families revealed rare reproduction- and metabolism-related variants in the androgen production pathway gene DENND1A.

With genomic and proteomic profiles for more than 100 colon cancer cases, researchers identified drug targets, treatment resistance insights, potential cancer drivers, and more.

The TATTON study found a combination therapy could treat some EGFR-positive lung cancer patients who developed MET-based resistance, but the best way to gauge MET status isn't yet clear.

By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.

Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

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A small, early-stage trial of a combination therapy for brain cancer reports favorable responses in two patients, according to the Guardian.

Nature News writes that viral genomic surveillance in the US faces systemic issues.

President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.

In PLOS this week: sex-stratified genome-wide association study of chronic pain, sequencing data from Indigenous Mexican groups, and more.