The application of genomics to medicine has accelerated the discovery of mutations
underlying disease and has enhanced our knowledge of the molecular underpinnings of …

It is possible to estimate the prior probability of pathogenicity for germline disease gene
variants based on bioinformatic prediction of variant effect/s. However, routinely used …

Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and
predisposition to cancer. However, identification of variants that impact splicing remains a …

The development of computational methods to assess pathogenicity of pre-messenger RNA
splicing variants is critical for diagnosis of human disease. We assessed the capability of …

Germline pathogenic loss-of-function (pLOF) variants in DICER1 are associated with a
predisposition for a variety of solid neoplasms, including pleuropulmonary blastoma and …

Purpose Current interpretation guidelines for germline variants in high-risk cancer
susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense …

Allele-specific gene expression can influence disease traits. Non-coding germline genetic
variants that alter regulatory elements can cause allele-specific gene expression and …

Introduction Poly (ADP-ribose) polymerase inhibitors significantly improve progression-free
survival in platinum-sensitive high-grade serous and endometrioid ovarian carcinoma, with …

Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic
diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the …

While whole‐genome and exome sequencing have transformed our collective
understanding of genetics' role in disease pathogenesis, there are certain conditions and …