exome sequencing

Incorporating splicing and other clues from muscle transcripts, researchers reached diagnoses in cases that were inconclusive after sequencing alone.

NantOmics hopes to enhance its diagnostics platform with the addition of Genos' sequencing technology and expertise.

A multi-region analysis of medulloblastoma and other tumor types highlighted the dramatic somatic alteration differences that can crop up within a single tumor.

Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.

This Week in PNAS

In PNAS this week: high-altitude adaptation signature among Tibetans, de novo mutations in early-onset high myopia, and more.

The company is now able to perform testing on specimens from New York without an additional permit application process. 

Protein patterns in patient-derived xenografts sometimes pointed to different alterations than those predicted from somatic mutation and expression data.

In Genome Biology this week: genes linked to Hirschsprung disease, structural variant patterns in autism, and more.

A pilot program will allow 100 individuals and families with a rare form of epilepsy to receive exome sequencing as part of a larger epilepsy genetics database effort.

An integrated analysis of uterine carcinosarcomas uncovered a range of somatic mutations and shifts in transcription, methylation, and microRNA expression.

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Researchers suggest that genetic variations could influence the side effects people experience when using synthetic cannabinoids, the International Business Times reports.

An analysis has examined the makeup of researchers on Twitter and what they share, Nature News reports.

At Stat News, Jim Kozubek argues that the Broad Institute is pushing the boundary of what a nonprofit is.

In PNAS this week: gut microbes may affect honeybee weight, phenotype and gene expression changes in DiGeorge syndrome, and more.