Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data-Reference-Cited by-同舟云学术

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Published:2015-07-22 Issue:9 Volume:36 Page:823-830
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Watson Christopher M.¹²,Crinnion Laura A.¹²,Gurgel-Gianetti Juliana³,Harrison Sally M.¹,Daly Catherine¹,Antanavicuite Agne¹,Lascelles Carolina¹,Markham Alexander F.¹,Pena Sergio D. J.⁴⁵,Bonthron David T.¹²,Carr Ian M.¹

Affiliation:

1. School of Medicine, University of Leeds; Leeds United Kingdom

2. Yorkshire Regional Genetics Service; St James's University Hospital; Leeds United Kingdom

3. Department of Pediatrics; Faculty of Medicine, Universidade Federal de Minas Gerais; Belo Horizonte Brazil

4. Laboratory of Clinical Genomics; Universidade Federal de Minas Gerais; Belo Horizonte Brazil

5. GENE-Nucleo de Genetica Medica de Minas Gerais; Belo Horizonte Brazil

Funder

Medical Research Council

Sir Jules Thorn Charitable Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22818/fullpdf

Reference19 articles.

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2. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995

3. Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond;Blue;Genet Epidemiol,2014

4. Autozygosity mapping with exome sequence data;Carr;Hum Mutat,2013

5. Identification of autosomal recessive disease loci using out-bred nuclear families;Carr;Hum Mutat,2012

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