ProbHD
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Application data |
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| Created by | Mathieu Blanchette |
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| Biological application domain(s) | Population genetics, SNP detection |
| Created at | McGill University |
| Maintained? | No |
| Programming language(s) | Perl, R, Python |
Summary: We present a new strategy for identifying heterozygous sites in a single individual by using a machine learning approach that generates a heterozygosity score for each chromosomal position. Our approach also facilitates the identification of regions with unequal representation of two alleles and other poorly sequenced regions. The availability of confidence scores allows for a principled combination of sequencing results from multiple samples.
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