Abstract Details
Activity Number:
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408
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Type:
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Contributed
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Date/Time:
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Tuesday, August 5, 2014 : 2:00 PM to 3:50 PM
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Sponsor:
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Section on Statistical Learning and Data Mining
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Abstract #313039
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Title:
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Genotype Calling in Trisomic Samples
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Author(s):
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Yan Lin*+ and Soo Yeon Cheong and Eleanor Feingold
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Companies:
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University of Pittsburgh and University of Pittsburgh and University of Pittsburgh
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Keywords:
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genotype calling ;
trisomy ;
SNP ;
Down syndrome
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Abstract:
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Genotypes calling methods for standard disomic genome are well established and software packages are available for various genotyping technologies. For individuals with chromosomal abnormalities (e.g. trisomic genome), however, standard genotype-calling software cannot be used. Previously, we developed both K-means based and parametric methods for trisomic genotype calling. Here we consider the problem of calling genotypes for a large sample of individuals with Down syndrome. We propose a method that first applies standard disomic genotype-calling algorithms and then adjusts the calls to handle the trisomy, and compare it to our previously-published methods that clusters the trisomic genotypes de novo. We also discuss the general practical approaches to call the genotypes for trisomic data.
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Authors who are presenting talks have a * after their name.
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