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Global variation in copy number in the human genome
Characterizing genetic variants for clinical action
The genetic legacy of the Mongols
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease
Large, rare chromosomal deletions associated with severe early-onset obesity
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
An integrated map of genetic variation from 1,092 human genomes
Accurate whole human genome sequencing using reversible terminator chemistry
Mapping copy number variation by population-scale genome sequencing
