Literature DB >> 35320569

Mutation Mapping and Identification by Whole-Genome Sequencing.

Harold E Smith1.   

Abstract

Geneticists approach biology with a simple question: which genes are required for the pathway or process of interest? Classical genetic screens (aka forward genetics) in model organisms such as Caenorhabditis elegans have been the method of choice for answering that question. Next-generation sequencing provides the means to generate a comprehensive list of sequence variants, including the mutation of interest. Herein is described a workflow for sample preparation and data analysis to allow the simultaneous mapping and identification of candidate mutations by whole-genome sequencing in Caenorhabditis elegans.
© 2022. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.

Entities:  

Keywords:  Mutation analysis; NGS library construction; Polymorphism mapping; Sequence variant; Whole-genome sequencing

Mesh:

Year:  2022        PMID: 35320569      PMCID: PMC9389619          DOI: 10.1007/978-1-0716-2181-3_13

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  15 in total

1.  A strategy for direct mapping and identification of mutations by whole-genome sequencing.

Authors:  Steven Zuryn; Stéphanie Le Gras; Karine Jamet; Sophie Jarriault
Journal:  Genetics       Date:  2010-07-06       Impact factor: 4.562

2.  THE ORIGIN OF NINE WING MUTATIONS IN DROSOPHILA.

Authors:  T H Morgan
Journal:  Science       Date:  1911-03-31       Impact factor: 47.728

3.  Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans.

Authors:  A Fire; S Xu; M K Montgomery; S A Kostas; S E Driver; C C Mello
Journal:  Nature       Date:  1998-02-19       Impact factor: 49.962

4.  Temperature-sensitive developmental mutants of Caenorhabditis elegans.

Authors:  D Hirsh; R Vanderslice
Journal:  Dev Biol       Date:  1976-03       Impact factor: 3.582

5.  C. elegans mutant identification with a one-step whole-genome-sequencing and SNP mapping strategy.

Authors:  Maria Doitsidou; Richard J Poole; Sumeet Sarin; Henry Bigelow; Oliver Hobert
Journal:  PLoS One       Date:  2010-11-08       Impact factor: 3.240

6.  The genetics of Caenorhabditis elegans.

Authors:  S Brenner
Journal:  Genetics       Date:  1974-05       Impact factor: 4.562

7.  Evaluating alignment and variant-calling software for mutation identification in C. elegans by whole-genome sequencing.

Authors:  Harold E Smith; Sijung Yun
Journal:  PLoS One       Date:  2017-03-23       Impact factor: 3.240

8.  The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update.

Authors:  Enis Afgan; Dannon Baker; Bérénice Batut; Marius van den Beek; Dave Bouvier; Martin Cech; John Chilton; Dave Clements; Nate Coraor; Björn A Grüning; Aysam Guerler; Jennifer Hillman-Jackson; Saskia Hiltemann; Vahid Jalili; Helena Rasche; Nicola Soranzo; Jeremy Goecks; James Taylor; Anton Nekrutenko; Daniel Blankenberg
Journal:  Nucleic Acids Res       Date:  2018-07-02       Impact factor: 16.971

9.  MIP-MAP: High-Throughput Mapping of Caenorhabditis elegans Temperature-Sensitive Mutants via Molecular Inversion Probes.

Authors:  Calvin A Mok; Vinci Au; Owen A Thompson; Mark L Edgley; Louis Gevirtzman; John Yochem; Joshua Lowry; Nadin Memar; Matthew R Wallenfang; Dominique Rasoloson; Bruce Bowerman; Ralf Schnabel; Geraldine Seydoux; Donald G Moerman; Robert H Waterston
Journal:  Genetics       Date:  2017-08-21       Impact factor: 4.562

10.  Mapping Challenging Mutations by Whole-Genome Sequencing.

Authors:  Harold E Smith; Amy S Fabritius; Aimee Jaramillo-Lambert; Andy Golden
Journal:  G3 (Bethesda)       Date:  2016-05-03       Impact factor: 3.154

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.