Literature DB >> 19287134

CNVs and genetic medicine (excitement and consequences of a rediscovery).

J S Beckmann1, A J Sharp, S E Antonarakis.   

Abstract

The extensive variability of individual human genomes contributes to phenotypic variability. Structural genomic variants, and copy number variants (CNVs) in particular, have recently been rediscovered as contributors to the genomic plasticity and evolution and as pathoetiologic elements for both monogenic and complex traits. Herein we review some of the consequences of CNVs in the context of human inherited diseases. Copyright 2009 S. Karger AG, Basel.

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Year:  2009        PMID： 19287134     DOI： 10.1159/000184687

Source DB:  PubMed          Journal:  Cytogenet Genome Res        ISSN： 1424-8581            Impact factor:   1.636


  7 in total

1.  Construction and phenotypic analysis of mice carrying a duplication of the major histocompatibility class I (MHC-I) locus.

Authors:  Olga Ermakova; Ekaterina Salimova; Lukasz Piszczek; Cornelius Gross
Journal:  Mamm Genome       Date:  2012-07-07       Impact factor: 2.957

Review 2.  Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.

Authors:  Kim Fechtel; Marika L Osterbur; Hildegard Kehrer-Sawatzki; Peter D Stenson; David N Cooper
Journal:  Hum Genet       Date:  2011-05-03       Impact factor: 4.132

3.  Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Authors:  Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878

4.  Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice.

Authors:  Olga Ermakova; Lukasz Piszczek; Luisa Luciani; Florence M G Cavalli; Tiago Ferreira; Dominika Farley; Stefania Rizzo; Rosa Chiara Paolicelli; Mumna Al-Banchaabouchi; Claus Nerlov; Richard Moriggl; Nicholas M Luscombe; Cornelius Gross
Journal:  EMBO Mol Med       Date:  2011-01       Impact factor: 12.137

5.  Copy number variation in the horse genome.

Authors:  Sharmila Ghosh; Zhipeng Qu; Pranab J Das; Erica Fang; Rytis Juras; E Gus Cothran; Sue McDonell; Daniel G Kenney; Teri L Lear; David L Adelson; Bhanu P Chowdhary; Terje Raudsepp
Journal:  PLoS Genet       Date:  2014-10-23       Impact factor: 5.917

6.  Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression.

Authors:  John Wiedenhoeft; Eric Brugel; Alexander Schliep
Journal:  PLoS Comput Biol       Date:  2016-05-13       Impact factor: 4.475

7.  Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Authors:  Pawel Borun; Lukasz Kubaszewski; Tomasz Banasiewicz; Jaroslaw Walkowiak; Marzena Skrzypczak-Zielinska; Marta Kaczmarek-Rys; Andrzej Plawski
Journal:  Hum Genet       Date:  2014-05       Impact factor: 4.132
  7 in total

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