HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data

By running standard genotype calling tools, it is possible to accurately identify the number of wild type and mutant alleles for each single-nucleotide polymorphism (SNP) site. However, in the case of two heterozygous SNP sites, genotype calling tools cannot determine whether mutant alleles from dif...

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Bibliographic Details
Main Authors: Berger, Emily R (Contributor), Yorukoglu, Deniz (Contributor), Berger Leighton, Bonnie (Contributor)
Other Authors: Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory (Contributor), Massachusetts Institute of Technology. Department of Mathematics (Contributor)
Format: Article
Language:English
Published: Springer Nature, 2018-05-17T17:52:04Z.
Subjects:
Online Access:Get fulltext
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100 1 0 |a Berger, Emily R  |e author 
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100 1 0 |a Massachusetts Institute of Technology. Department of Mathematics  |e contributor 
100 1 0 |a Berger, Emily R  |e contributor 
100 1 0 |a Yorukoglu, Deniz  |e contributor 
100 1 0 |a Berger Leighton, Bonnie  |e contributor 
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700 1 0 |a Berger Leighton, Bonnie  |e author 
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520 |a By running standard genotype calling tools, it is possible to accurately identify the number of wild type and mutant alleles for each single-nucleotide polymorphism (SNP) site. However, in the case of two heterozygous SNP sites, genotype calling tools cannot determine whether mutant alleles from different SNP loci are on the same chromosome or on different homologous chromosomes (i.e. compound heterozygote). 
655 7 |a Article 
773 |t Research in Computational Molecular Biology