A haplotype-resolved genome assembly of the bocaccio rockfish, Sebastes paucispinis.

Rockfishes (genus Sebastes) are one of the most diverse clades amongst teleosts (ray-finned fishes). The genus includes more than 110 species which are distributed broadly across the North Pacific Ocean, North and South Atlantic Ocean, and Southeastern Pacific Ocean. Rockfishes exhibit particularly high diversity along the western coast of the United States, where their abundance plays a critical role in local marine ecosystems and fisheries.

Recurrent evolution and selection shape structural diversity at the amylase locus.

The adoption of agriculture triggered a rapid shift towards starch-rich diets in human populations. Amylase genes facilitate starch digestion, and increased amylase copy number has been observed in some modern human populations with high-starch intake, although evidence of recent selection is lacking. Here, using 94 long-read haplotype-resolved assemblies and short-read data from approximately 5,600 contemporary and ancient humans, we resolve the diversity and evolutionary history of structural variation at the amylase locus.

Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics.

Structural variants (SVs) account for the majority of base pair differences both within and between primate species. However, our understanding of inter- and intra-species SV has been historically hampered by the quality of draft primate genomes and the absence of genome resources for key taxa. Recently, advances in long-read sequencing and genome assembly have begun to radically reshape our understanding of SVs.

loco-pipe: an automated pipeline for population genomics with low-coverage whole-genome sequencing.

Summary: We developed loco-pipe, a Snakemake pipeline that seamlessly streamlines a set of essential population genomic analyses for low-coverage whole genome sequencing (lcWGS) data. loco-pipe is highly automated, easily customizable, massively parallelized, and thus is a valuable tool for both new and experienced users of lcWGS.

Availability And Implementation: loco-pipe is published under the GPLv3.

Global diversity, recurrent evolution, and recent selection on amylase structural haplotypes in humans.

The adoption of agriculture, first documented ~12,000 years ago in the Fertile Crescent, triggered a rapid shift toward starch-rich diets in human populations. Amylase genes facilitate starch digestion and increased salivary amylase copy number has been observed in some modern human populations with high starch intake, though evidence of recent selection is lacking. Here, using 52 long-read diploid assemblies and short read data from ~5,600 contemporary and ancient humans, we resolve the diversity, evolutionary history, and selective impact of structural variation at the amylase locus.

Batch effects in population genomic studies with low-coverage whole genome sequencing data: Causes, detection and mitigation.

Over the past few decades, there has been an explosion in the amount of publicly available sequencing data. This opens new opportunities for combining data sets to achieve unprecedented sample sizes, spatial coverage or temporal replication in population genomic studies. However, a common concern is that nonbiological differences between data sets may generate patterns of variation in the data that can confound real biological patterns, a problem known as batch effects.