Genotype Calling from Population-Genomic Sequencing Data
Genotype calling plays important roles in population-genomic studies, which have been greatly accelerated by sequencing technologies. To take full advantage of the resultant information, we have developed maximum-likelihood (ML) methods for calling genotypes from high-throughput sequencing data. As...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Oxford University Press
2017-05-01
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| Series: | G3: Genes, Genomes, Genetics |
| Subjects: | |
| Online Access: | http://g3journal.org/lookup/doi/10.1534/g3.117.039008 |
| _version_ | 1819095045112856576 |
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| author | Takahiro Maruki Michael Lynch |
| author_facet | Takahiro Maruki Michael Lynch |
| author_sort | Takahiro Maruki |
| collection | DOAJ |
| description | Genotype calling plays important roles in population-genomic studies, which have been greatly accelerated by sequencing technologies. To take full advantage of the resultant information, we have developed maximum-likelihood (ML) methods for calling genotypes from high-throughput sequencing data. As the statistical uncertainties associated with sequencing data depend on depths of coverage, we have developed two types of genotype callers. One approach is appropriate for low-coverage sequencing data, and incorporates population-level information on genotype frequencies and error rates pre-estimated by an ML method. Performance evaluation using computer simulations and human data shows that the proposed framework yields less biased estimates of allele frequencies and more accurate genotype calls than current widely used methods. Another type of genotype caller applies to high-coverage sequencing data, requires no prior genotype-frequency estimates, and makes no assumption on the number of alleles at a polymorphic site. Using computer simulations, we determine the depth of coverage necessary to accurately characterize polymorphisms using this second method. We applied the proposed method to high-coverage (mean 18×) sequencing data of 83 clones from a population of Daphnia pulex. The results show that the proposed method enables conservative and reasonably powerful detection of polymorphisms with arbitrary numbers of alleles. We have extended the proposed method to the analysis of genomic data for polyploid organisms, showing that calling accurate polyploid genotypes requires much higher coverage than diploid genotypes. |
| first_indexed | 2024-12-21T23:37:03Z |
| format | Article |
| id | doaj.art-404c354a81e14cc0b53cbb212987e44b |
| institution | Directory Open Access Journal |
| issn | 2160-1836 |
| language | English |
| last_indexed | 2024-12-21T23:37:03Z |
| publishDate | 2017-05-01 |
| publisher | Oxford University Press |
| record_format | Article |
| series | G3: Genes, Genomes, Genetics |
| spelling | doaj.art-404c354a81e14cc0b53cbb212987e44b2022-12-21T18:46:19ZengOxford University PressG3: Genes, Genomes, Genetics2160-18362017-05-01751393140410.1534/g3.117.0390082Genotype Calling from Population-Genomic Sequencing DataTakahiro MarukiMichael LynchGenotype calling plays important roles in population-genomic studies, which have been greatly accelerated by sequencing technologies. To take full advantage of the resultant information, we have developed maximum-likelihood (ML) methods for calling genotypes from high-throughput sequencing data. As the statistical uncertainties associated with sequencing data depend on depths of coverage, we have developed two types of genotype callers. One approach is appropriate for low-coverage sequencing data, and incorporates population-level information on genotype frequencies and error rates pre-estimated by an ML method. Performance evaluation using computer simulations and human data shows that the proposed framework yields less biased estimates of allele frequencies and more accurate genotype calls than current widely used methods. Another type of genotype caller applies to high-coverage sequencing data, requires no prior genotype-frequency estimates, and makes no assumption on the number of alleles at a polymorphic site. Using computer simulations, we determine the depth of coverage necessary to accurately characterize polymorphisms using this second method. We applied the proposed method to high-coverage (mean 18×) sequencing data of 83 clones from a population of Daphnia pulex. The results show that the proposed method enables conservative and reasonably powerful detection of polymorphisms with arbitrary numbers of alleles. We have extended the proposed method to the analysis of genomic data for polyploid organisms, showing that calling accurate polyploid genotypes requires much higher coverage than diploid genotypes.http://g3journal.org/lookup/doi/10.1534/g3.117.039008genotype callpolymorphismpopulation genomics |
| spellingShingle | Takahiro Maruki Michael Lynch Genotype Calling from Population-Genomic Sequencing Data G3: Genes, Genomes, Genetics genotype call polymorphism population genomics |
| title | Genotype Calling from Population-Genomic Sequencing Data |
| title_full | Genotype Calling from Population-Genomic Sequencing Data |
| title_fullStr | Genotype Calling from Population-Genomic Sequencing Data |
| title_full_unstemmed | Genotype Calling from Population-Genomic Sequencing Data |
| title_short | Genotype Calling from Population-Genomic Sequencing Data |
| title_sort | genotype calling from population genomic sequencing data |
| topic | genotype call polymorphism population genomics |
| url | http://g3journal.org/lookup/doi/10.1534/g3.117.039008 |
| work_keys_str_mv | AT takahiromaruki genotypecallingfrompopulationgenomicsequencingdata AT michaellynch genotypecallingfrompopulationgenomicsequencingdata |