Novel biallelic variants in the PLEC gene are associated with severe hearing loss

T Zhang, Z Xu, D Zheng, X Wang, J He, L Zhang… - Hearing Research, 2023 - Elsevier
Pediatric auditory neuropathy spectrum disorder is a particular type of hearing loss caused
by abnormal sound transmission from the cochlea to the brain. It is due to defective …

Polygenic Selection and Environmental Influence on Adult Body Height: Genetic and Living Standard Contributions Across Diverse Populations

D Piffer, EOW Kirkegaard - Twin Research and Human Genetics, 2024 - cambridge.org
We analyzed whole-genome sequencing (WGS) data from 51 populations and combined
WGS and array data from 89 populations. Multiple types of polygenic scores (PGS) were …

Comprehensive Analysis of Mitochondrial DNA Variation in the Taiwan Biobank: Implications for Complex Traits and Population Genetics

TH Chou, PM Chien, PX Chen, NC Lee, HY Wang… - medRxiv, 2024 - medrxiv.org
This study presents a comprehensive analysis of mitochondrial DNA (mtDNA) variation in
the Taiwan Biobank (TWB), providing insights into the genetic characteristics of the …