Literature DB >> 16941472

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Ian M Carr1, Kimberley J Flintoff, Graham R Taylor, Alexander F Markham, David T Bonthron.   

Abstract

Autozygosity mapping of recessive disorders using small numbers of highly inbred families is a powerful tool for disease gene identification. With the advent of cheap rapid methods for whole-genome SNP genotyping, data analysis, rather than laboratory work, has become rate-limiting for this approach. Here, we describe AutoSNPa, a computer program used for handling and visually presenting large amounts of SNP data, in such a way as to facilitate the rapid identification and subsequent scrutiny of autozygous regions.

Entities:  

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Year:  2006        PMID： 16941472     DOI： 10.1002/humu.20383

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  68 in total

1.  LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

Authors:  Abdullah Alangari; Abdulrahman Alsultan; Nouran Adly; Michel J Massaad; Iram Shakir Kiani; Abdulrahman Aljebreen; Emad Raddaoui; Abdul-Kareem Almomen; Saleh Al-Muhsen; Raif S Geha; Fowzan S Alkuraya
Journal:  J Allergy Clin Immunol       Date:  2012-06-19       Impact factor: 10.793

2.  Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Authors:  Mary C O'Driscoll; Sarah B Daly; Jill E Urquhart; Graeme C M Black; Daniela T Pilz; Knut Brockmann; Meriel McEntagart; Ghada Abdel-Salam; Maha Zaki; Nicole I Wolf; Roger L Ladda; Susan Sell; Stefano D'Arrigo; Waney Squier; William B Dobyns; John H Livingston; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2010-08-19       Impact factor: 11.025

3.  Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Authors:  David A Parry; Clare V Logan; Bruce E Hayward; Michael Shires; Hanène Landolsi; Christine Diggle; Ian Carr; Cécile Rittore; Isabelle Touitou; Laurent Philibert; Rosemary A Fisher; Masoumeh Fallahian; John D Huntriss; Helen M Picton; Saghira Malik; Graham R Taylor; Colin A Johnson; David T Bonthron; Eamonn G Sheridan
Journal:  Am J Hum Genet       Date:  2011-09-01       Impact factor: 11.025

4.  Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Authors:  Christine P Diggle; Stacey J Sukoff Rizzo; Michael Popiolek; Reetta Hinttala; Jan-Philip Schülke; Manju A Kurian; Ian M Carr; Alexander F Markham; David T Bonthron; Christopher Watson; Saghira Malik Sharif; Veronica Reinhart; Larry C James; Michelle A Vanase-Frawley; Erik Charych; Melanie Allen; John Harms; Christopher J Schmidt; Joanne Ng; Karen Pysden; Christine Strick; Päivi Vieira; Katariina Mankinen; Hannaleena Kokkonen; Matti Kallioinen; Raija Sormunen; Juha O Rinne; Jarkko Johansson; Kati Alakurtti; Laura Huilaja; Tiina Hurskainen; Kaisa Tasanen; Eija Anttila; Tiago Reis Marques; Oliver Howes; Marius Politis; Somayyeh Fahiminiya; Khanh Q Nguyen; Jacek Majewski; Johanna Uusimaa; Eamonn Sheridan; Nicholas J Brandon
Journal:  Am J Hum Genet       Date:  2016-04-07       Impact factor: 11.025

5.  Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Authors:  David A Parry; Steven J Brookes; Clare V Logan; James A Poulter; Walid El-Sayed; Suhaila Al-Bahlani; Sharifa Al Harasi; Jihad Sayed; El Mostafa Raïf; Roger C Shore; Mayssoon Dashash; Martin Barron; Joanne E Morgan; Ian M Carr; Graham R Taylor; Colin A Johnson; Michael J Aldred; Michael J Dixon; J Tim Wright; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Am J Hum Genet       Date:  2012-08-16       Impact factor: 11.025

6.  Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Authors:  Fatema Zahrani; Mohammed A Aldahmesh; Muneera J Alshammari; Selwa A F Al-Hazzaa; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

7.  Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Authors:  Emma M Jenkinson; Atteeq U Rehman; Tom Walsh; Jill Clayton-Smith; Kwanghyuk Lee; Robert J Morell; Meghan C Drummond; Shaheen N Khan; Muhammad Asif Naeem; Bushra Rauf; Neil Billington; Julie M Schultz; Jill E Urquhart; Ming K Lee; Andrew Berry; Neil A Hanley; Sarju Mehta; Deirdre Cilliers; Peter E Clayton; Helen Kingston; Miriam J Smith; Thomas T Warner; Graeme C Black; Dorothy Trump; Julian R E Davis; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Mary-Claire King; Thomas B Friedman; William G Newman
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

8.  IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Authors:  Mohammed A Aldahmesh; Yuanyuan Li; Amal Alhashem; Shams Anazi; Hisham Alkuraya; Mais Hashem; Ali A Awaji; Sameera Sogaty; Abdullah Alkharashi; Saeed Alzahrani; Selwa A Al Hazzaa; Yong Xiong; Shanshan Kong; Zhaoxia Sun; Fowzan S Alkuraya
Journal:  Hum Mol Genet       Date:  2014-01-31       Impact factor: 6.150

9.  TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

Authors:  A Kemal Topaloglu; Frank Reimann; Metin Guclu; Ayse Serap Yalin; L Damla Kotan; Keith M Porter; Ayse Serin; Neslihan O Mungan; Joshua R Cook; Sazi Imamoglu; N Sema Akalin; Bilgin Yuksel; Stephen O'Rahilly; Robert K Semple
Journal:  Nat Genet       Date:  2008-12-11       Impact factor: 38.330

10.  HomozygosityMapper--an interactive approach to homozygosity mapping.

Authors:  Dominik Seelow; Markus Schuelke; Friedhelm Hildebrandt; Peter Nürnberg
Journal:  Nucleic Acids Res       Date:  2009-05-21       Impact factor: 16.971
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