Henry Richard Johnston

TL;DR: Genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations is presented, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas.

TL;DR: A genome-wide meta-analysis from the Consortium on Asthma among African Ancestry Populations (CAAPA) finds strong evidence for association at four previously reported asthma loci and identifies two potentially African ancestry-specific loci that may be specific to asthma risk in African ancestry populations.

TL;DR: An integrated computational package, PEMapper/PECaller, that was designed specifically to minimize the burden on networks and disk arrays, create output files that are minimal in size, and run in a highly computationally efficient way is presented.

TL;DR: This array is designed based on the novel variation identified in 642 CAAPA samples of African ancestry with high coverage whole genome sequence data, and will enable better GWAS analyses for researchers with individuals of African descent in their study populations.

TL;DR: This article provides a likelihood-based approach to testing rare variant associations that directly models sequencing reads without calling genotypes, and demonstrates that the proposed tests are robust to a wide range of differential sequencing qualities between cases and controls.