The GTEx Consortium atlas of genetic regulatory effects across human tissues
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...
Clonal hematopoiesis with somatic mutations is readily detected by means of DNA sequencing, is increasingly common as people age, and is associated with increased risks of hemat...
Abstract Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads ...
Abstract Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with ...
h-index: Number of publications with at least h citations each.