Literature DB >> 19435744

Generating linkage mapping files from Affymetrix SNP chip data.

M Bahlo1, C J Bromhead.   

Abstract

SUMMARY: LINKDATAGEN is a perl tool that generates linkage mapping input files for five different linkage mapping tools using data from all 11 HAPMAP Phase III populations. It provides rudimentary error checks and is easily amended for personal linkage mapping preferences.
AVAILABILITY AND IMPLEMENTATION: LINKDATAGEN is available from http://bioinf.wehi.edu.au/software/linkdatagen/ with accompanying annotation files, reference manual and test dataset.

Entities:  

Mesh：

Year:  2009        PMID： 19435744     DOI： 10.1093/bioinformatics/btp313

Source DB:  PubMed          Journal:  Bioinformatics        ISSN： 1367-4803            Impact factor:   6.937


  39 in total

1.  Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Authors:  Hiroshi Doi; Kunihiro Yoshida; Takao Yasuda; Mitsunori Fukuda; Yoko Fukuda; Hiroshi Morita; Shu-ichi Ikeda; Rumiko Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Haruya Sakai; Satoko Miyatake; Masaaki Shiina; Nobuyuki Nukina; Shigeru Koyano; Shoji Tsuji; Yoshiyuki Kuroiwa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2011-08-12       Impact factor: 11.025

2.  PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers.

Authors:  Alejandro Q Nato; Nicola H Chapman; Harkirat K Sohi; Hiep D Nguyen; Zoran Brkanac; Ellen M Wijsman
Journal:  Bioinformatics       Date:  2015-07-30       Impact factor: 6.937

3.  A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

Authors:  Michael S Hildebrand; Luke Gandolfo; A Eliot Shearer; Jennifer A Webster; Maren Jensen; William J Kimberling; Dietrich Stephan; Patrick L M Huygen; Richard J H Smith; Melanie Bahlo
Journal:  Laryngoscope       Date:  2010-12       Impact factor: 3.325

4.  Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Authors:  Alistair T Pagnamenta; Pierre Heemeryck; Hilary C Martin; Christophe Bosc; Leticia Peris; Ivy Uszynski; Sylvie Gory-Fauré; Simon Couly; Charu Deshpande; Ata Siddiqui; Alaa A Elmonairy; Sandeep Jayawant; Sarada Murthy; Ian Walker; Lucy Loong; Peter Bauer; Frédérique Vossier; Eric Denarier; Tangui Maurice; Emmanuel L Barbier; Jean-Christophe Deloulme; Jenny C Taylor; Edward M Blair; Annie Andrieux; Marie-Jo Moutin
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

5.  Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Authors:  Lisa G Riley; Sandra Cooper; Peter Hickey; Joëlle Rudinger-Thirion; Matthew McKenzie; Alison Compton; Sze Chern Lim; David Thorburn; Michael T Ryan; Richard Giegé; Melanie Bahlo; John Christodoulou
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

6.  Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Authors:  Hane Lee; Meng-chin A Lin; Harley I Kornblum; Diane M Papazian; Stanley F Nelson
Journal:  Hum Mol Genet       Date:  2014-02-05       Impact factor: 6.150

7.  The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.

Authors:  Karl Martin Klein; Manuela Pendziwiat; Anda Eilam; Ronit Gilad; Ilan Blatt; Felix Rosenow; Moien Kanaan; Ingo Helbig; Zaid Afawi
Journal:  J Neurol       Date:  2017-06-15       Impact factor: 4.849

8.  A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Authors:  Carolin K Scriba; Sarah J Beecroft; Joshua S Clayton; Andrea Cortese; Roisin Sullivan; Wai Yan Yau; Natalia Dominik; Miriam Rodrigues; Elizabeth Walker; Zoe Dyer; Teddy Y Wu; Mark R Davis; David C Chandler; Ben Weisburd; Henry Houlden; Mary M Reilly; Nigel G Laing; Phillipa J Lamont; Richard H Roxburgh; Gianina Ravenscroft
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501

9.  Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Authors:  Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen-Lang Lin; Dennis W Dickson; Hans-Henrik Dahl; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

10.  A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Authors:  Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025
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