Literature DB >> 31610893

De Novo Mutations Reflect Development and Aging of the Human Germline.

J M Goldmann1, J A Veltman2, C Gilissen3.   

Abstract

Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of parent-offspring trios has facilitated the large-scale detection and study of human DNMs, which has led to exciting discoveries. The overarching theme of all of these studies is that the DNMs of an individual are a complex mixture of mutations that arise through different biological processes acting at different times during human development and life.
Copyright © 2019 The Authors. Published by Elsevier Ltd.. All rights reserved.

Entities:  

Keywords:  aging; de novo mutation; embryonic development; germline

Mesh：

Year:  2019        PMID： 31610893     DOI： 10.1016/j.tig.2019.08.005

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  24 in total

1.  Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Authors:  Qian Liu; Justyna A Karolak; Christopher M Grochowski; Theresa A Wilson; Jill A Rosenfeld; Carlos A Bacino; Seema R Lalani; Ankita Patel; Amy Breman; Janice L Smith; Sau Wai Cheung; James R Lupski; Weimin Bi; Pawel Stankiewicz
Journal:  Genomics       Date:  2020-05-06       Impact factor: 5.736

2.  Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

Authors:  Madison R Bishop; Kimberly K Diaz Perez; Miranda Sun; Samantha Ho; Pankaj Chopra; Nandita Mukhopadhyay; Jacqueline B Hetmanski; Margaret A Taub; Lina M Moreno-Uribe; Luz Consuelo Valencia-Ramirez; Claudia P Restrepo Muñeton; George Wehby; Jacqueline T Hecht; Frederic Deleyiannis; Seth M Weinberg; Yah Huei Wu-Chou; Philip K Chen; Harrison Brand; Michael P Epstein; Ingo Ruczinski; Jeffrey C Murray; Terri H Beaty; Eleanor Feingold; Robert J Lipinski; David J Cutler; Mary L Marazita; Elizabeth J Leslie
Journal:  Am J Hum Genet       Date:  2020-06-22       Impact factor: 11.025

3.  A paternal bias in germline mutation is widespread in amniotes and can arise independently of cell division numbers.

Authors:  Marc de Manuel; Felix L Wu; Molly Przeworski
Journal:  Elife       Date:  2022-08-02       Impact factor: 8.713

4.  No evidence of increased mutations in the germline of a group of British nuclear test veterans.

Authors:  Alexander J Moorhouse; Martin Scholze; Nicolas Sylvius; Clare Gillham; Christine Rake; Julian Peto; Rhona Anderson; Yuri E Dubrova
Journal:  Sci Rep       Date:  2022-07-05       Impact factor: 4.996

5.  Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.

Authors:  J G Seidman; Christine E Seidman; Sarah U Morton; Alexandre C Pereira; Daniel Quiat; Felix Richter; Alexander Kitaygorodsky; Jacob Hagen; Daniel Bernstein; Martina Brueckner; Elizabeth Goldmuntz; Richard W Kim; Richard P Lifton; George A Porter; Martin Tristani-Firouzi; Wendy K Chung; Amy Roberts; Bruce D Gelb; Yufeng Shen; Jane W Newburger
Journal:  Circ Genom Precis Med       Date:  2022-02-07

Review 6.  The origin of human mutation in light of genomic data.

Authors:  Vladimir B Seplyarskiy; Shamil Sunyaev
Journal:  Nat Rev Genet       Date:  2021-06-23       Impact factor: 53.242

Review 7.  The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Molly Chapman; Katy Evans; Luisa Azevedo; Matthew Hayden; Sally Heywood; David S Millar; Andrew D Phillips; David N Cooper
Journal:  Hum Genet       Date:  2020-06-28       Impact factor: 4.132

Review 8.  Stability across the Whole Nuclear Genome in the Presence and Absence of DNA Mismatch Repair.

Authors:  Scott Alexander Lujan; Thomas A Kunkel
Journal:  Cells       Date:  2021-05-17       Impact factor: 6.600

9.  Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study.

Authors:  Cheng Wang; Hong Lv; Xiufeng Ling; Hong Li; Feiyang Diao; Juncheng Dai; Jiangbo Du; Ting Chen; Qi Xi; Yang Zhao; Kun Zhou; Bo Xu; Xiumei Han; Xiaoyu Liu; Meijuan Peng; Congcong Chen; Shiyao Tao; Lei Huang; Cong Liu; Mingyang Wen; Yangqian Jiang; Tao Jiang; Chuncheng Lu; Wei Wu; Di Wu; Minjian Chen; Yuan Lin; Xuejiang Guo; Ran Huo; Jiayin Liu; Hongxia Ma; Guangfu Jin; Yankai Xia; Jiahao Sha; Hongbing Shen; Zhibin Hu
Journal:  Cell Res       Date:  2021-06-09       Impact factor: 46.297

10.  A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.

Authors:  Samira Kalayinia; Majid Maleki; Mohammad Mahdavi; Nejat Mahdieh
Journal:  J Clin Lab Anal       Date:  2019-12-22       Impact factor: 2.352
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