Katherine M. Munson

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 genome assembly that results from using the long-read data provides a more complete picture of gene content, structural variation, and repeat biology, improving population genetic and evolutionary inferences.

TL;DR: Interestingly, when the authors repeat SV detection on a pseudodiploid genome constructed in silico by merging the two haploids, it is found that ∼59% of the heterozygous SVs are no longer detected by SMRT-SV, indicating that haploid resolution of long-read sequencing data will significantly increase sensitivity of SV detection.

TL;DR: High contiguity human genomes can be assembled de novo in 6 h using nanopore long-read sequences and the Shasta toolkit, and the assembly performance is compared to existing methods for diploid, haploid and trio-binned human samples and report superior accuracy and speed.

TL;DR: In this article, the authors present 64 assembled haplotypes from 32 diverse human genomes, which integrate all forms of genetic variation, even across complex loci, and identify 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing.