Trypanolytic variants in APOL1, which encodes apolipoprotein L1, associate with kidney
disease in African Americans, but whether APOL1-associated glomerular disease has a …

Over the past 5 years, genomewide association studies have yielded a wealth of insight into
genes and chromosomal loci that contribute to susceptibility to disease. This article, the …

Genome-wide association studies have been successful in identifying single nucleotide
polymorphisms (SNPs) associated with a large number of phenotypes. However, an …

Widespread adoption of massively parallel deoxyribonucleic acid (DNA) sequencing
instruments has prompted the recent development of de novo short read assembly …

The decade since the Human Genome Project ended has witnessed a remarkable
sequencing technology explosion that has permitted a multitude of questions about the …

In the past few years genome-wide association (GWA) studies have uncovered a large
number of convincingly replicated associations for many complex human diseases …

DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

Determination of haplotype phase is becoming increasingly important as we enter the era of
large-scale sequencing because many of its applications, such as imputing low-frequency …

Detecting genetic variants that are highly divergent from a reference sequence remains a
major challenge in genome sequencing. We introduce de novo assembly algorithms using …

India has been underrepresented in genome-wide surveys of human variation. We analyse
25 diverse groups in India to provide strong evidence for two ancient populations …