Jian Wang

The paper assembles haploid genomes of Muscovy ducks and analyzes genetic, expression, and regulatory patterns of parental alleles in the ZW system, finding differences in chromatin accessibility and gene expression between maternal and paternal haplotypes.

The paper identifies MAPK3 as a driver gene in 16p11.2 deletion-associated neurodevelopmental disorders, showing haplotype-specific expression and cis-regulatory enhancer SNPs contribute to variable phenotypes.

This study evaluates genome sequencing as a first-line prenatal diagnostic tool, finding it more comprehensive than CMA plus exome sequencing in detecting genetic anomalies and nongenetic factors.