Kelley Marie Paskov

ASLAN identifies regions of the human genome missing from GRCh38 and finds new genetic diversity hotspots by analyzing unmapped reads from nuclear families.

The paper analyzes contamination in whole genome sequencing data from 1,000 families, identifying bacterial, viral, and computational sources that affect sequencing accuracy.

The paper analyzes whole genome sequences of families to study the human blood DNA virome, finding evidence of household transmission and de novo viral integration.

The paper identifies structural variants in SARS-CoV-2 sequences and links them to recombination events and template-switching hotspots.

This study uses whole-genome sequencing in multiplex families to identify novel inherited and de novo genetic risk factors for autism, revealing 16 new ASD-risk genes and supporting 69 total genes.