Jiale Xiang

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

NanoCAH, a long-read sequencing assay, accurately detects all known variants and resolves haplotypes in CAH-associated genes, outperforming conventional methods.

This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.

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.

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 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 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.

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