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mutation detection

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.

In cases lacking explanatory protein-coding changes, researchers saw an uptick in de novo mutations in conserved, non-coding regulatory elements.

Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.

PGDx has the exclusive rights to develop both tissue- and blood-based diagnostics using MSK’s TMB-related intellectual property.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.