Zhuozhi Wang

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

PangyPlot is a genome browser that simplifies exploration of pangenome graphs, enabling visualization of genetic variation in populations with diverse haplotypes.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.