Tag: whole exome sequencing

A new study shows that mutations emerging in the ENPP1 gene during treatment drive cisplatin resistance and recurrence in hypopharyngeal ...

A first-of-its-kind multi-omics study shows that dogs and humans share key genetic drivers and conserved tumor microenvironment features in hepatocellular ...

Swedish researchers report that a de novo variant in the GABBR2 gene, which encodes a GABA-B receptor subunit, caused classic ...

Sri Lankan researchers have combined gene expression analysis with computational protein modeling to functionally characterize genetic variants behind rare inherited ...

Whole exome sequencing of a teenage girl with treatment-refractory macrocytic anemia revealed a novel frameshift mutation in ALAS2, confirming X-linked ...

A 50-year-old woman with fifteen years of recurrent collapsed lungs was finally diagnosed with Birt-Hogg-Dubé syndrome after genetic sequencing revealed ...

Researchers have identified a novel KRIT1 initiation-region frameshift variant in a pediatric family whose members range from asymptomatic lesion carriers ...

A trio-based whole-exome sequencing study of Rwandan children with autism has identified rare pathogenic and uncertain variants in nearly a ...

Researchers identified novel PRSS1 trypsinogen variants in IgG4-related disease tissue and linked them to M2 macrophage-driven type 2 immune responses.

A new targeted long-read RNA sequencing workflow called RAPID provided actionable functional evidence for splicing variants in every one of ...