Jiguang Peng
Shenzhen, China
Last Updated: 09/26/2026
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Found 12 publications
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.
Journal: NPJ genomic medicine
Published: July 29, 2024
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.
Journal: Human mutation
Published: May 18, 2024
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Journal: Clinical chemistry
Published: December 29, 2022
Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.
Journal: American journal of obstetrics & gynecology MFM
Published: October 20, 2022
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Journal: Human mutation
Published: November 30, 2020
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Journal: Scientific reports
Published: October 12, 2020
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Journal: BMC medical genomics
Published: May 20, 2020
Concurrent hearing and genetic screening in a general newborn population.
Journal: Human genetics
Published: November 06, 2019
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
Journal: Human mutation
Published: September 13, 2019
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
Journal: BMC medical genomics
Published: January 29, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026