Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …

Worldwide, hundreds of thousands of humans have had their genomes or exomes
sequenced, and access to the resulting data sets can provide valuable information for variant …

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-…

Regulation of transcript structure generates transcript diversity and plays an important role
in human disease 1 , 2 , 3 , 4 , 5 , 6 – 7 . The advent of long-read sequencing technologies …

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of
1,000,000 live births and has been associated with mutations in components of the ribosome…

Naturally occurring human genetic variants that are predicted to inactivate protein-coding
genes provide an in vivo model of human gene inactivation that complements knockout studies …