Anne Marie E. Welch

TL;DR: A suite of long-read, short- read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms are applied to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner.

TL;DR: The improved ape genome assemblies provide the most comprehensive view to date of intermediate-size structural variation and highlight several dozen genes associated withStructural variation and brain-expression differences between humans and chimpanzees.

TL;DR: A computational method based on polyploid phasing of long sequence reads to resolve collapsed regions of segmental duplications within genome assemblies and shows that the corresponding sequence is highly accurate and that the diverged sequence corresponds to copy-number-variable paralogs that are absent from the human reference genome.

TL;DR: The complement factor H (CFH) locus has evolved predominantly through incomplete segmental duplication and identifies recurrent reuse of donor and acceptor duplications leading to CFHR fusion genes with diverse functions, providing strong evidence for the shared role of selective pressure on diversity and disease.