Nobuaki Masaki

SPARK reconstructs enhancer-based gene regulatory networks using single-cell multiomics data and prior knowledge, revealing regulatory links associated with immune disease GWAS variants.

The paper models gene conversion tract lengths in humans using UK Biobank data, finding most tracts are short with a mean of 16.9 bp, and a small proportion are much longer.

The paper introduces a hidden Markov model to detect recombination in SARS-CoV-2 sequences and identifies parental lineages without user-specified parameters, finding 1.73% of sequences are recombinant.

This study estimates genotype error rates and uncalled deletion rates in whole genome sequence data using a new model applied to UK Biobank parent-offspring trios.