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exome sequencing

Thousands of parent-child exomes helped researchers identify apparently causative mobile element insertions in a handful of children with developmental disorders.

Researchers identified variants in the germline that appear to influence DNA methylation levels in prostate cancer tumors or in precancerous tissues.

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

A report from the NSIGHT2 trial compares the diagnostic and analytical performance of clinical whole-genome and exome sequencing on an infant cohort.

The companies will use Foundation Medicine's FoundationOne CDx test as the baseline to define a set of unique variants that the codeveloped assays will monitor.

Exome sequencing and other molecular strategies led to a heterogeneous variant in the DNMT3A gene that appears to impact host epigenetic and immune features.

The researchers believe that combining liquid and tissue biopsy can improve diagnostic and therapeutic options for cancer patients with acquired drug resistance mutations.

In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review.

Investigators plan to profile clonal hematopoiesis in a broad range of patients to get a clearer look at its interactions with aging and disease.

The firm did not disclose the size of the funding, which is helping it build on its Centrellis Health Intelligence Platform and move to whole-exome sequencing. 

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23andMe has a holiday popup shop at a mall and could open additional stores, Bloomberg reports.

By studying koalas and a retrovirus that infects them, researchers may have uncovered a new sort of 'immune response' that occurs at the genomic level, Agence France Presse reports.

NPR reports that the first person in the US given a gene editing-based therapy for a genetic disorder is heading home.

In Science this week: ancient genomes reveal social inequality within individual households, new method for quantifying genetic variation in gene dosage, and more.