Pui–Yan Kwok

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

The Taiwan Precision Medicine Initiative (TPMI) recruits a large cohort for genetic and electronic medical record studies to advance precision medicine.

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

LOCLA improves genome assemblies by filling gaps and connecting scaffolds using diverse sequencing data, enhancing both quantity and quality of assembled sequences.

The paper investigates the 3q29 genomic region, identifying novel haplotypes and breakpoint segments associated with deletion and duplication syndromes, and categorizes cases into distinct classes.

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

This paper presents a de novo genome assembly of the olive baboon using long-read and Hi-C data, significantly improving contig size and chromosome scaffolding compared to the previous reference genome.

The paper characterizes the genetic structure of South Asian populations, identifies founder effects and high homozygosity, and develops a custom SNP array for genetic studies in the region.

The paper evaluates how parameter choices affect variant interpretation pipelines by systematically perturbing parameters and shows that certain choices significantly impact sensitivity and specificity.

This study evaluates the quality of exome sequencing from DNA extracted from dried blood spots (DBS) and finds it comparable to whole blood, with similar variant calling accuracy.

The paper identifies putative cis-regulatory elements associated with blood pressure traits using open chromatin and gene expression data, and identifies several candidate genes for further functional testing.

The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.

The paper uses optical mapping to analyze subtelomere structure and variation across 154 human genomes, identifying novel haplotypes and population-specific trends.

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

The paper assesses the quality of the 1000 Genomes Project data by comparing phased haplotypes with experimental data and finds that rare variant phasing and imputation are unreliable due to limited sample size.

The paper presents a high-resolution chromosome-assigned genome of the Komodo dragon, identifying adaptations in cardiovascular, muscular, and chemosensory systems through comparative genomics.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study used whole-exome sequencing to investigate genetic factors associated with long-term kidney transplant rejection but found no statistically significant associations.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

This study identifies pharmacogenetic variants associated with albuterol bronchodilator response in minority children with asthma using whole genome sequencing.

OMSV identifies large structural variations from optical maps with high accuracy, outperforming existing methods and detecting many missed by sequencing.