Literature DB >> 16014370

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data.

K Hoffmann1, T H Lindner.   

Abstract

UNLABELLED: We extended the original easyLINKAGE program by enabling linkage analyses for large-scale SNP data in addition to those of microsatellites. We implemented new modules for Allegro, Merlin, SimWalk, GeneHunter Imprinting, GeneHunter TwoLocus, SuperLink and extended FastSLink by automatic loop breaking and new outputs. We added conditional linkage analyses as well as multipoint simulation studies, and extended error test routines by checking for Mendelian/non-Mendelian genotyping errors and for deviations from Hardy-Weinberg equilibrium. Data can be analyzed in sets of markers, in defined centimorgan intervals and by using different allele frequency algorithms. The outputs consist of 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 CONTACT: tom.lindner@mail.uni-wuerzburg.de SUPPLEMENTARY INFORMATION: Supplementary information is available on the website. The current version is v4.01beta.

Entities:  

Mesh:

Year:  2005        PMID: 16014370     DOI: 10.1093/bioinformatics/bti571

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


  90 in total

1.  Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

Authors:  Muhammad Hashim Raza; Sheikh Riazuddin; Dennis Drayna
Journal:  Hum Genet       Date:  2010-08-13       Impact factor: 4.132

2.  Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.

Authors:  Deborah W Neklason; Thérèse M Tuohy; Jeffery Stevens; Brith Otterud; Lisa Baird; Richard A Kerber; Wade S Samowitz; Scott K Kuwada; Mark F Leppert; Randall W Burt
Journal:  J Med Genet       Date:  2010-06-03       Impact factor: 6.318

3.  Novel genetic findings in an extended family pedigree with sleepwalking.

Authors:  A K Licis; D M Desruisseau; K A Yamada; S P Duntley; C A Gurnett
Journal:  Neurology       Date:  2011-01-04       Impact factor: 9.910

4.  Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Authors:  Cathryn J Poulton; Rachel Schot; Sima Kheradmand Kia; Marta Jones; Frans W Verheijen; Hanka Venselaar; Marie-Claire Y de Wit; Esther de Graaff; Aida M Bertoli-Avella; Grazia M S Mancini
Journal:  Am J Hum Genet       Date:  2011-08-12       Impact factor: 11.025

5.  Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Authors:  A B Ekici; D Hilfinger; M Jatzwauk; C T Thiel; D Wenzel; I Lorenz; E Boltshauser; T W Goecke; G Staatz; D J Morris-Rosendahl; H Sticht; U Hehr; A Reis; A Rauch
Journal:  Mol Syndromol       Date:  2010-09-14

6.  Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Authors:  Alice Abdel Aleem; Nourhan Abu-Shahba; Dominika Swistun; Jennifer Silhavy; Stephanie L Bielas; Shifteh Sattar; Joseph G Gleeson; Maha S Zaki
Journal:  Eur J Med Genet       Date:  2010-11-12       Impact factor: 2.708

7.  Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

Authors:  Maria Arélin; Bernt Schulze; Bertram Müller-Myhsok; Denise Horn; Alexander Diers; Birgit Uhlenberg; Peter Nürnberg; Gudrun Nürnberg; Christian Becker; Stefan Mundlos; Tom H Lindner; Karl Sperling; Katrin Hoffmann
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

8.  Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Authors:  Rosalind Law; Tracy Dixon-Salazar; Julie Jerber; Na Cai; Ansar A Abbasi; Maha S Zaki; Kirti Mittal; Stacey B Gabriel; Muhammad Arshad Rafiq; Valeed Khan; Maria Nguyen; Ghazanfar Ali; Brett Copeland; Eric Scott; Nasim Vasli; Anna Mikhailov; Muhammad Nasim Khan; Danielle M Andrade; Muhammad Ayaz; Muhammad Ansar; Muhammad Ayub; John B Vincent; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

9.  Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Authors:  Naiara Akizu; Nuri M Shembesh; Tawfeg Ben-Omran; Laila Bastaki; Asma Al-Tawari; Maha S Zaki; Roshan Koul; Emily Spencer; Rasim Ozgur Rosti; Eric Scott; Elizabeth Nickerson; Stacey Gabriel; Gilberto da Gente; Jiang Li; Matthew A Deardorff; Laura K Conlin; Margaret A Horton; Elaine H Zackai; Elliott H Sherr; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

10.  Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Authors:  Ali Jalali; Kimberly A Aldinger; Ajit Chary; David G McLone; Robin M Bowman; Luan Cong Le; Phillip Jardine; Ruth Newbury-Ecob; Andrew Mallick; Nadereh Jafari; Eric J Russell; John Curran; Pam Nguyen; Karim Ouahchi; Charles Lee; William B Dobyns; Kathleen J Millen; Joao M Pina-Neto; John A Kessler; Alexander G Bassuk
Journal:  Hum Genet       Date:  2008-01-19       Impact factor: 4.132

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.