Zhiyu Peng

This paper develops a long-read indexed PCR method using the CycloneSEQ nanopore platform to detect all hemoglobinopathy variants with 100% sensitivity and specificity.

This paper evaluates the clinical and cost-effectiveness of combining whole-genome and RNA sequencing for diagnosing neuromuscular disorders in patients with negative whole-exome results.

This study evaluates two RNA-seq methods for Mendelian disease diagnosis using blood samples, finding polyA-selection outperforms rRNA depletion in detecting disease-related genes and variants.

The paper interprets all possible single-nucleotide substitution variants in the GJB2 gene, classifies them by pathogenicity, and identifies genotype-phenotype correlations in hearing loss.

The paper identifies five novel genes associated with non-obstructive azoospermia through whole exome sequencing and linkage analysis in a case-control study.

PSEA prioritizes candidate genes for mendelian disease diagnosis by improving phenotypic similarity evaluation using HPO terms and showing better performance than existing methods.

VIP-HL semi-automates ACMG/AMP variant interpretation for genetic hearing loss, achieving high concordance with expert panels and available as a web tool.

This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.

This study uses a stepwise approach combining multiplex PCR and exome sequencing to diagnose 64% of non-syndromic hearing loss patients, identifying 59 molecular diagnoses from 92 unrelated cases.

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.

This study evaluates PCR-free whole genome sequencing for clinical diagnosis, showing improved sensitivity and PPV for variant detection compared to PCR-based methods.

AutoPVS1 is an automatic tool for PVS1 interpretation of null variants, achieving 95% concordance with manual curation and highlighting variant-specific issues and disease mechanisms.

The paper evaluates how ultrasonography helps identify false-negative aneuploidy cases missed by noninvasive prenatal screening.

This study demonstrates a haplotype-based noninvasive prenatal diagnosis for Hemophilia A using cell-free fetal DNA, confirming results with amniocentesis.

This study validates a noninvasive prenatal diagnosis method for Duchenne Muscular Dystrophy using direct haplotype phasing from maternal DNA sequencing.

This study demonstrates the feasibility and accuracy of haplotype-based noninvasive prenatal diagnosis for Duchenne Muscular Dystrophy using targeted sequencing in a cohort of at-risk pregnancies.

This study shows that adding genetic screening to newborn hearing tests in China improves detection and reduces loss-to-follow-up, with significant benefits for identifying preventable hearing loss.

This study identifies a novel TTN mutation causing autosomal dominant atrioventricular block in a Chinese family through whole-exome sequencing and co-segregation analysis.

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.

This study uses whole exome sequencing to identify genetic causes of short stature in 20 patients, finding molecular diagnoses in 45% with discrepancies between clinical and genetic diagnoses.