Literature DB >> 22991087

High throughput sequencing approaches to mutation discovery in the mouse.

Michelle M Simon1, Ann-Marie Mallon, Gareth R Howell, Laura G Reinholdt.   

Abstract

Phenotype-driven approaches in mice are powerful strategies for the discovery of genes and gene functions and for unravelling complex biological mechanisms. Traditional methods for mutation discovery are reliable and robust, but they can also be laborious and time consuming. Recently, high-throughput sequencing (HTS) technologies have revolutionised the process of forward genetics in mice by paving the way to rapid mutation discovery. However, successful application of HTS for mutation discovery relies heavily on the sequencing approach employed and strategies for data analysis. Here we review current HTS applications and resources for mutation discovery and provide an overview of the practical considerations for HTS implementation and data analysis.

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Year:  2012        PMID: 22991087      PMCID: PMC3724459          DOI: 10.1007/s00335-012-9424-0

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  101 in total

Review 1.  The mutagenic action of N-ethyl-N-nitrosourea in the mouse.

Authors:  J K Noveroske; J S Weber; M J Justice
Journal:  Mamm Genome       Date:  2000-07       Impact factor: 2.957

2.  Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn.

Authors:  Laura G Reinholdt; Yueming Ding; Griffith J Gilbert; Griffith T Gilbert; Anne Czechanski; Jeffrey P Solzak; Randall J Roper; Mark T Johnson; Leah Rae Donahue; Cathleen Lutz; Muriel T Davisson
Journal:  Mamm Genome       Date:  2011-09-28       Impact factor: 2.957

3.  Mapping short DNA sequencing reads and calling variants using mapping quality scores.

Authors:  Heng Li; Jue Ruan; Richard Durbin
Journal:  Genome Res       Date:  2008-08-19       Impact factor: 9.043

4.  ZOOM! Zillions of oligos mapped.

Authors:  Hao Lin; Zefeng Zhang; Michael Q Zhang; Bin Ma; Ming Li
Journal:  Bioinformatics       Date:  2008-08-06       Impact factor: 6.937

5.  LookSeq: a browser-based viewer for deep sequencing data.

Authors:  Heinrich Magnus Manske; Dominic P Kwiatkowski
Journal:  Genome Res       Date:  2009-08-13       Impact factor: 9.043

6.  Evolution of the mutation rate.

Authors:  Michael Lynch
Journal:  Trends Genet       Date:  2010-06-30       Impact factor: 11.639

7.  CloudMap: a cloud-based pipeline for analysis of mutant genome sequences.

Authors:  Gregory Minevich; Danny S Park; Daniel Blankenberg; Richard J Poole; Oliver Hobert
Journal:  Genetics       Date:  2012-10-10       Impact factor: 4.562

8.  Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold.

Authors:  Yan Yang; Barbara J Beyer; James F Otto; Timothy P O'Brien; Verity A Letts; H Steve White; Wayne N Frankel
Journal:  Hum Mol Genet       Date:  2003-05-01       Impact factor: 6.150

9.  Phenotype-based identification of mouse chromosome instability mutants.

Authors:  Naoko Shima; Suzanne A Hartford; Ted Duffy; Lawriston A Wilson; Kerry J Schimenti; John C Schimenti
Journal:  Genetics       Date:  2003-03       Impact factor: 4.562

10.  Mutation discovery in the mouse using genetically guided array capture and resequencing.

Authors:  Mark D'Ascenzo; Carl Meacham; Jacob Kitzman; Christina Middle; Jim Knight; Roger Winer; Miroslav Kukricar; Todd Richmond; Thomas J Albert; Anne Czechanski; Leah Rae Donahue; Jason Affourtit; Jeffrey A Jeddeloh; Laura Reinholdt
Journal:  Mamm Genome       Date:  2009-07-21       Impact factor: 2.957

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  4 in total

1.  Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Authors:  Caroline M Gorvin; Nellie Y Loh; Michael J Stechman; Sara Falcone; Fadil M Hannan; Bushra N Ahmad; Sian E Piret; Anita Ac Reed; Jeshmi Jeyabalan; Paul Leo; Mhairi Marshall; Siddharth Sethi; Paul Bass; Ian Roberts; Jeremy Sanderson; Sara Wells; Tertius A Hough; Liz Bentley; Paul T Christie; Michelle M Simon; Ann-Marie Mallon; Herbert Schulz; Roger D Cox; Matthew A Brown; Norbert Huebner; Steve D Brown; Rajesh V Thakker
Journal:  J Bone Miner Res       Date:  2019-03-04       Impact factor: 6.741

2.  Moving forward with forward genetics: A summary of the INFRAFRONTIER Forward Genetics Panel Discussion.

Authors:  Asrar Ali Khan; Michael Raess; Martin Hrabe de Angelis
Journal:  F1000Res       Date:  2021-06-08

Review 3.  Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.

Authors:  Michelle M Simon; Eva Marie Y Moresco; Katherine R Bull; Saumya Kumar; Ann-Marie Mallon; Bruce Beutler; Paul K Potter
Journal:  Mamm Genome       Date:  2015-10-08       Impact factor: 2.957

4.  An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Authors:  Caroline M Gorvin; Bushra N Ahmad; Michael J Stechman; Nellie Y Loh; Tertius A Hough; Paul Leo; Mhairi Marshall; Siddharth Sethi; Liz Bentley; Sian E Piret; Anita Reed; Jeshmi Jeyabalan; Paul T Christie; Sara Wells; Michelle M Simon; Ann-Marie Mallon; Herbert Schulz; Norbert Huebner; Matthew A Brown; Roger D Cox; Steve D Brown; Rajesh V Thakker
Journal:  J Bone Miner Res       Date:  2018-12-14       Impact factor: 6.741

  4 in total

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