Joint genotype calling with array and sequence data.
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...
Hauptverfasser: | O'Connell, J, Marchini, J |
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Format: | Journal article |
Sprache: | English |
Veröffentlicht: |
2012
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