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...
| Main Authors: | , , |
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| Other Authors: | |
| Format: | Article |
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Springer Nature
2018
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| Online Access: | http://hdl.handle.net/1721.1/115432 https://orcid.org/0000-0003-2315-0768 https://orcid.org/0000-0002-2724-7228 |
| _version_ | 1826216914404245504 |
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| author | Berger, Emily R Yorukoglu, Deniz Berger Leighton, Bonnie |
| author2 | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory |
| author_facet | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Berger, Emily R Yorukoglu, Deniz Berger Leighton, Bonnie |
| author_sort | Berger, Emily R |
| collection | MIT |
| description | 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). |
| first_indexed | 2024-09-23T16:55:09Z |
| format | Article |
| id | mit-1721.1/115432 |
| institution | Massachusetts Institute of Technology |
| last_indexed | 2024-09-23T16:55:09Z |
| publishDate | 2018 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | mit-1721.1/1154322022-10-03T09:09:45Z HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data Berger, Emily R Yorukoglu, Deniz Berger Leighton, Bonnie Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology. Department of Mathematics Berger, Emily R Yorukoglu, Deniz Berger Leighton, Bonnie 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). 2018-05-17T17:52:04Z 2018-05-17T17:52:04Z 2015-03 2018-05-16T16:45:43Z Article http://purl.org/eprint/type/JournalArticle 978-3-319-16705-3 978-3-319-16706-0 0302-9743 1611-3349 http://hdl.handle.net/1721.1/115432 Berger, Emily et al. “HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data.” Research in Computational Molecular Biology (2015): 28–29 © 2015 Springer International Publishing Switzerland https://orcid.org/0000-0003-2315-0768 https://orcid.org/0000-0002-2724-7228 http://dx.doi.org/10.1007/978-3-319-16706-0_4 Research in Computational Molecular Biology Creative Commons Attribution-Noncommercial-Share Alike http://creativecommons.org/licenses/by-nc-sa/4.0/ application/pdf Springer Nature PMC |
| spellingShingle | Berger, Emily R Yorukoglu, Deniz Berger Leighton, Bonnie HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title | HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title_full | HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title_fullStr | HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title_full_unstemmed | HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title_short | HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data |
| title_sort | haptree x an integrative bayesian framework for haplotype reconstruction from transcriptome and genome sequencing data |
| url | http://hdl.handle.net/1721.1/115432 https://orcid.org/0000-0003-2315-0768 https://orcid.org/0000-0002-2724-7228 |
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