The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

The selection of effective genes that accurately predict chemotherapy responses might improve
cancer outcomes. We compare optimized gene signatures for cisplatin, carboplatin, and …

Mutations that affect m RNA splicing often produce multiple m RNA isoforms, resulting in
complex molecular phenotypes. Definition of an exon and its inclusion in mature m RNA relies …

BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC) does not
identify all pathogenic variants. Sequencing of 20 complete genes in HBOC patients with …

Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient
cohort have been used to stratify and predict survival. The present study used normalized …

Purpose To characterize the spectrum of germline mutations in BRCA1, BRCA2, and PALB2
in population-based unselected breast cancer cases in an Asian population. Methods …

Data from ChIP-seq experiments can derive the genome-wide binding specificities of
transcription factors (TFs) and other regulatory proteins. We analyzed 765 ENCODE ChIP-seq …

Splice isoform structure and abundance can be affected by either noncoding or masquerading
coding variants that alter the structure or abundance of transcripts. When these variants …

hYVH1 [human orthologue of YVH1 (yeast VH1-related phosphatase)] is an atypical dual-specificity
phosphatase that is widely conserved throughout evolution. Deletion studies in …

Background Sequencing of both healthy and disease singletons yields many novel and low
frequency variants of uncertain significance (VUS). Complete gene and genome sequencing …