Search results for "postmortem damage"

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Inferring heterozygosity from ancient and low coverage genomes

2016

Abstract While genetic diversity can be quantified accurately from high coverage sequencing data, it is often desirable to obtain such estimates from data with low coverage, either to save costs or because of low DNA quality, as is observed for ancient samples. Here, we introduce a method to accurately infer heterozygosity probabilistically from sequences with average coverage <1× of a single individual. The method relaxes the infinite sites assumption of previous methods, does not require a reference sequence, except for the initial alignment of the sequencing data, and takes into account both variable sequencing errors and potential postmortem damage. It is thus also applicable to …

Male0301 basic medicineHeterozygotePopulationGenomicsInvestigationsBiologyGenome03 medical and health sciences0302 clinical medicineGeneticsheterozygosityHumanslow coverageDNA AncienteducationPopulation and Evolutionary Geneticsancient DNA030304 developmental biologyGeneticsWhole genome sequencing0303 health scienceseducation.field_of_studyGenetic diversityBase SequenceGenome HumanGenetic Carrier ScreeningChromosome MappingGenetic VariationContrast (statistics)Coverage dataSequence Analysis DNApostmortem damageVariable (computer science)Genetics Population030104 developmental biologyAncient DNAEvolutionary biologybase recalibrationSoftware030217 neurology & neurosurgeryReference genome
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