Transgenerational effects of paternal exposures: the role of germline de novo mutations
H Dehghanbanadaki, M Jimbo, K Fendereski… - …, 2024 - Wiley Online Library
Germline de novo mutations (DNMs) refer to spontaneous mutations arising during
gametogenesis, resulting in genetic changes within germ cells that are subsequently …
gametogenesis, resulting in genetic changes within germ cells that are subsequently …
Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses
J Axelsson, D LeBlanc, H Shojaeisaadi, MJ Meier… - Scientific Reports, 2024 - nature.com
De novo mutations (DNMs) are drivers of genetic disorders. However, the study of DNMs is
hampered by technological limitations preventing accurate quantification of ultra-rare …
hampered by technological limitations preventing accurate quantification of ultra-rare …
Sperm from infertile, oligozoospermic men have elevated mutation rates
Male infertility is associated with elevated rates of aneuploidy and DNA breaks in
spermatozoa and germline precursors. This common condition is not well understood and is …
spermatozoa and germline precursors. This common condition is not well understood and is …
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data
NG Sandran, DL Fornarino, MA Corbett, T Kroes… - Genetics in …, 2024 - Elsevier
Purpose The gold standard for identification of post-zygotic variants (PZVs) is droplet digital
polymerase chain reaction or high-depth sequencing across multiple tissues types. These …
polymerase chain reaction or high-depth sequencing across multiple tissues types. These …
Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome
J Pan, J Li, S Chen, C Xu, H Huang, L Jin - Frontiers in Genetics, 2022 - frontiersin.org
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being
restricted to sperm. However, it could potentially underlie severe sporadic disease in their …
restricted to sperm. However, it could potentially underlie severe sporadic disease in their …
[HTML][HTML] 精子嵌合变异及其对后代的影响
晓旭杨 - Journal of Sichuan University (Medical Sciences), 2024 - pmc.ncbi.nlm.nih.gov
基因组嵌合变异会导致同一个体生殖细胞和体细胞基因组不同。 嵌合变异包含不同变异类型，
其中新发变异指患者父母中无法检测但患者可以检测的变异， 大规模人类家系基因组和遗传 …
其中新发变异指患者父母中无法检测但患者可以检测的变异， 大规模人类家系基因组和遗传 …
Non-neutral clonal selection and its potential role in mammalian germline stem cell dysfunction with advancing age
The concept of natural selection, or" survival of the fittest", refers to an evolutionary process
in nature whereby traits emerge in individuals of a population through random gene …
in nature whereby traits emerge in individuals of a population through random gene …