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mutation detection

A Phase III randomized trial uncovered enhanced carboplatin response in advanced triple-negative breast cancer patients with germline mutations affecting BRCA1/2.

The company said it will seek FDA approval for the assay, an expanded version of FoundationACT, as a CDx for targeted therapies and as a tumor mutation profiling assay.

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

Presentations largely reflected negatively on the utility of PD-L1 for stratifying response, but pivotal new data on tumor mutational burden as assessed by Foundation Medicine's genomic sequencing panel.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.

Bringing together more than 1,000 prostate cancer exomes, researchers uncovered almost 100 significantly mutated genes, including drivers mutated in a fraction of tumors.

Prospective panel sequencing on colorectal cancer patients picked up Lynch syndrome with sensitivity and specificity that met or exceeded gene-by-gene tests.

Researchers identified rare, functionally disruptive variants in the voltage-gated sodium channel gene SCN4A in a small subset of SIDS cases.

Both a genome-wide association study and a rare variant burden analysis homed in on a role for KIF5A mutations in amyotrophic lateral sclerosis.

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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.