Literature DB >> 15347576

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses.

Tom H Lindner1, K Hoffmann.   

Abstract

UNLABELLED: We have generated the program easyLINKAGE that combines automated setup and performance of linkage analyses and simulation under an easy to handle graphical user interface for Microsoft Windows 2000/XP and standard UNIX systems. The program package supports two-point linkage analyses (FastLink v4.1 and SPLink v1.09), multi-point linkage analyses [GENEHUNTER v2.1, GENEHUNTER-PLUS with the emendation by Kong and Cox v1.2 (allele sharing modelling)] and the simulation package SLINK v2.65, and provides genome-wide as well as chromosomal postscript plots of LOD scores, NPL scores, P-values and other parameters. AVAILABILITY: http://www.uni-wuerzburg.de/nephrologie/molecular_genetics/molecular_genetics.htm SUPPLEMENTARY INFORMATION: Supplementary information is available on the website.

Entities:  

Mesh:

Year:  2004        PMID: 15347576     DOI: 10.1093/bioinformatics/bti009

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


  90 in total

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2.  A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.

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3.  Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

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4.  Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

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5.  Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Authors:  Christina A Gurnett; David M Desruisseau; Kevin McCall; Ryan Choi; Zachary I Meyer; Michael Talerico; Sara E Miller; Jeong-Sun Ju; Alan Pestronk; Anne M Connolly; Todd E Druley; Conrad C Weihl; Mathew B Dobbs
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6.  Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

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7.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Authors:  Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan
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8.  A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Authors:  A M Waryah; M Shahzad; H Shaikh; S A Sheikh; N A Channa; R B Hufnagel; A Makhdoom; S Riazuddin; Z M Ahmed
Journal:  Clin Genet       Date:  2015-12-21       Impact factor: 4.438

9.  Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

Authors:  Nele Hilgert; Kelly Monahan; Kiyoto Kurima; Cindy Li; Rick A Friedman; Andrew J Griffith; Guy Van Camp
Journal:  J Hum Genet       Date:  2009-01-30       Impact factor: 3.172

10.  MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Authors:  Obaid M Albulym; Marina L Kennerson; Matthew B Harms; Alexander P Drew; Anna H Siddell; Michaela Auer-Grumbach; Alan Pestronk; Anne Connolly; Robert H Baloh; Stephan Zuchner; Stephen W Reddel; Garth A Nicholson
Journal:  Ann Neurol       Date:  2016-01-13       Impact factor: 10.422

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