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.

Pages

Mice in New York harbor both antibiotic-resistant bacteria and novel viruses, according to a new analysis of their fecal microbiomes.

Human Heredity and Health in Africa Initiative has issued guidelines for genomic research in the region, according to Nature News.

The Associated Press reports that an ethicist predicts that prenatal diagnosis and other advances will lead to more choices being available to prospective parents.

In Genome Biology this week: approach to analyze alternative polyadenylation, algorithm to predict transcriptomic structural variations, and more.