Harold Z. Wang

Neanderthal introgressed ancestry reveals human genomic regions enriched with recessive deleterious mutations

The paper uses Neanderthal ancestry patterns to identify genomic regions enriched with recessive deleterious mutations using a machine learning classifier.

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

Functional annotation of rare structural variation in the human brain

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.