Yang Sui

This study benchmarks saliva-derived DNA against blood for long-read sequencing in autism, showing comparable variant detection despite nonhuman DNA contamination.

The paper identifies noncoding MECP2 variants that cause male-biased autism by disrupting CRE activity and reducing MECP2 expression.

The paper constructs a high-resolution human pangenome structural variant resource, identifies disease-associated SVs, and demonstrates its utility in filtering variants from probands and associating SVs with traits in a large cohort.

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

The paper identifies genetic variants associated with autistic traits in adults aged 40 and above using UK Biobank and SPARK cohorts, linking them to brain structure and function.

This study shows parental educational attainment polygenic scores influence offspring autism symptoms through indirect genetic effects and are linked to later diagnosis age.

The paper evaluates individual-level performance of polygenic risk scores (PRSs) using a benchmark cohort of early-onset coronary artery disease patients, showing variability in PRS accuracy and highlighting the need for individual-level validation.

This study benchmarks donor-specific assemblies for improved detection of somatic structural variants in a melanoma cell line, finding they identify more variants, especially in repeat-rich regions.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper identifies sex-biased molecular vulnerabilities in the developing human cortex linked to neurodevelopmental disorders by integrating transcriptomic and epigenomic data with mutation analysis.

The paper uses long-read sequencing to analyze de novo mutations in autism families, finding higher mutation rates in repetitive DNA and a paternal bias in postzygotic mutations.

The paper evaluates the instability of polygenic risk scores (PRS) across different publications and introduces an integrative scoring framework to improve classification consistency.