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Joint Genotype Calling With Array and Sequence Data

Abstract:

Analysis of rare variants is currently a major focus of genetic studies of human disease. Single-nucleotide polymorphism (SNP) genotypes can be assayed using microarray genotyping or by sequencing, but neither technology produces perfect genotype calls, especially at rare SNPs. Studies that collect both types of data are becoming increasingly common, so it may be possible to combine data types to increase accuracy. We present a method, called Chiamante, which calls genotypes on individuals wi...

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Publisher copy:
10.1002/gepi.21657

Authors


O'Connell, J More by this author
Marchini, J More by this author
Journal:
Genetic Epidemiology
Volume:
36
Issue:
6
Pages:
527-537
Publication date:
2012-09-05
DOI:
EISSN:
1098-2272
ISSN:
0741-0395
URN:
uuid:ec247a8b-6a16-4032-b5a0-af0c8f8988f7
Source identifiers:
350014
Local pid:
pubs:350014

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