Tag: whole exome sequencing

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 ...

Whole exome sequencing of 93 people with concussion history reveals a fivefold excess of rare damaging variants in ion channel ...

Whole exome sequencing of arsenic-exposed women in Bihar, India has uncovered rare and potentially pathogenic variants in the DNA repair ...

In a groundbreaking advancement that could dramatically reshape the diagnosis and treatment of certain kidney diseases, a team of researchers ...

In a groundbreaking study, researchers have employed whole-exome sequencing to identify a pathogenic variant in the MITF gene, which has ...

In a groundbreaking study published in Nature Communications, researchers have revealed a crucial genetic link that increases susceptibility to a ...