Tag: whole exome sequencing

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 ...

In a groundbreaking study recently published in BMC Cancer, researchers have shed light on the biological underpinnings of explosive tumor ...