exome sequencing | GenomeWeb

exome sequencing

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.

Using a new mathematical model, researchers uncovered mutational signatures related to homologous recombination deficiency in up to one-fifth of breast cancers.

Mutation and expression patterns in longitudinal, multifocal, and solitary tumor samples suggest glioblastoma follows a multiverse model of evolution.

The Israeli startup is establishing a global digital marketplace to facilitate genetic testing services.

Samples from metastatic melanoma patients treated sequentially with immunotherapies targeting CTLA4 and PD-1 pointed to response-related tumor features.

A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.

In Genome Biology this week: comparative genomics study of Aspergillus, genetic variation in indigenous African cattle, and more.

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

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An opinion piece in the New York Times urges lawmakers to keep genetic protections in place.

Research funding in Canada is to remain mostly the same, ScienceInsider reports.

In Science this week: random DNA replication errors play role in cancer, and more.

The Bill and Melinda Gates Foundation embarks on an open-access publishing path.