An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data.
Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.
Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations.
Complexation hydrogels for oral protein delivery: an in vitro assessment of the insulin transport-enhancing effects following dissolution in simulated digestive fluids.
How informatics can potentiate precompetitive open-source collaboration to jump-start drug discovery and development.
