Literature DB >> 15647291

ALOHOMORA: a tool for linkage analysis using 10K SNP array data.

Franz Rüschendorf1, Peter Nürnberg.   

Abstract

SUMMARY: ALOHOMORA is a software tool designed to facilitate genome-wide linkage studies performed with high-density single nucleotide polymorphism (SNP) marker panels such as the Affymetrix GeneChip(R) Human Mapping 10K Array. Genotype data are converted into appropriate formats for a number of common linkage programs and subjected to standard quality control routines before linkage runs are started. ALOHOMORA is written in Perl and may be used to perform state-of-the-art linkage scans in small and large families with any genetic model. Options for using different genetic maps or ethnicity-specific allele frequencies are implemented. Graphic outputs of whole-genome multipoint LOD score values are provided for the entire dataset as well as for individual families. AVAILABILITY: ALOHOMORA is available free of charge for non-commercial research institutions. For more details, see http://gmc.mdc-berlin.de/alohomora/

Entities:  

Mesh：

Year:  2005        PMID： 15647291     DOI： 10.1093/bioinformatics/bti264

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


  91 in total

1.  Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Authors:  Julian Schubert; Aleksandra Siekierska; Mélanie Langlois; Patrick May; Clément Huneau; Felicitas Becker; Hiltrud Muhle; Arvid Suls; Johannes R Lemke; Carolien G F de Kovel; Holger Thiele; Kathryn Konrad; Amit Kawalia; Mohammad R Toliat; Thomas Sander; Franz Rüschendorf; Almuth Caliebe; Inga Nagel; Bernard Kohl; Angela Kecskés; Maxime Jacmin; Katia Hardies; Sarah Weckhuysen; Erik Riesch; Thomas Dorn; Eva H Brilstra; Stephanie Baulac; Rikke S Møller; Helle Hjalgrim; Bobby P C Koeleman; Karin Jurkat-Rott; Frank Lehman-Horn; Jared C Roach; Gustavo Glusman; Leroy Hood; David J Galas; Benoit Martin; Peter A M de Witte; Saskia Biskup; Peter De Jonghe; Ingo Helbig; Rudi Balling; Peter Nürnberg; Alexander D Crawford; Camila V Esguerra; Yvonne G Weber; Holger Lerche
Journal:  Nat Genet       Date:  2014-11-02       Impact factor: 38.330

2.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

3.  Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Authors:  Markus N Preising; Nora Hausotter-Will; Manuel C Solbach; Christoph Friedburg; Franz Rüschendorf; Birgit Lorenz
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-08       Impact factor: 4.799

4.  Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Authors:  Detlef Bockenhauer; Sally Feather; Horia C Stanescu; Sascha Bandulik; Anselm A Zdebik; Markus Reichold; Jonathan Tobin; Evelyn Lieberer; Christina Sterner; Guida Landoure; Ruchi Arora; Tony Sirimanna; Dorothy Thompson; J Helen Cross; William van't Hoff; Omar Al Masri; Kjell Tullus; Stella Yeung; Yair Anikster; Enriko Klootwijk; Mike Hubank; Michael J Dillon; Dirk Heitzmann; Mauricio Arcos-Burgos; Mark A Knepper; Angus Dobbie; William A Gahl; Richard Warth; Eamonn Sheridan; Robert Kleta
Journal:  N Engl J Med       Date:  2009-05-07       Impact factor: 91.245

5.  A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Authors:  Marian A J Weterman; Vincenzo Sorrentino; Paul R Kasher; Marja E Jakobs; Baziel G M van Engelen; Kees Fluiter; Marit B de Wissel; Aleksander Sizarov; Gudrun Nürnberg; Peter Nürnberg; Noam Zelcer; H Jurgen Schelhaas; Frank Baas
Journal:  Hum Mol Genet       Date:  2011-10-19       Impact factor: 6.150

6.  A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

Authors:  Farzaneh Larti; Kimia Kahrizi; Luciana Musante; Hao Hu; Elahe Papari; Zohreh Fattahi; Niloofar Bazazzadegan; Zhe Liu; Mehdi Banan; Masoud Garshasbi; Thomas F Wienker; H Hilger Ropers; Niels Galjart; Hossein Najmabadi
Journal:  Eur J Hum Genet       Date:  2014-02-26       Impact factor: 4.246

7.  Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Authors:  Shazia Ashraf; Bethan E Hoskins; Hassan Chaib; Julia Hoefele; Andreas Pasch; Pawaree Saisawat; Friedrich Trefz; Hans W Hacker; Gudrun Nuernberg; Peter Nuernberg; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2009-12-10       Impact factor: 5.992

8.  A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

Authors:  Masoud Garshasbi; Valeh Hadavi; Haleh Habibi; Kimia Kahrizi; Roxana Kariminejad; Farkhondeh Behjati; Andreas Tzschach; Hossein Najmabadi; Hans Hilger Ropers; Andreas Walter Kuss
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

9.  A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Authors:  E Stogmann; S El Tawil; J Wagenstaller; A Gaber; S Edris; A Abdelhady; E Assem-Hilger; F Leutmezer; S Bonelli; C Baumgartner; F Zimprich; T M Strom; A Zimprich
Journal:  Neurogenetics       Date:  2008-10-11       Impact factor: 2.660

10.  A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Authors:  Friedhelm Hildebrandt; Saskia F Heeringa; Franz Rüschendorf; Massimo Attanasio; Gudrun Nürnberg; Christian Becker; Dominik Seelow; Norbert Huebner; Gil Chernin; Christopher N Vlangos; Weibin Zhou; John F O'Toole; Bethan E Hoskins; Matthias T F Wolf; Bernward G Hinkes; Hassan Chaib; Shazia Ashraf; Dominik S Schoeb; Bugsu Ovunc; Susan J Allen; Virginia Vega-Warner; Eric Wise; Heather M Harville; Robert H Lyons; Joseph Washburn; James Macdonald; Peter Nürnberg; Edgar A Otto
Journal:  PLoS Genet       Date:  2009-01-23       Impact factor: 5.917
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