A method for positive forensic identification of samples from extremely low-coverage sequence dataReportar como inadecuado

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BMC Genomics

, 16:1034

Human and rodent genomics


BackgroundDetermining whether two DNA samples originate from the same individual is difficult when the amount of retrievable DNA is limited. This is often the case for ancient, historic, and forensic samples. The most widely used approaches rely on amplification of a defined panel of multi-allelic markers and comparison to similar data from other samples. When the amount retrievable DNA is low these approaches fail.

ResultsWe describe a new method for assessing whether shotgun DNA sequence data from two samples are consistent with originating from the same or different individuals. Our approach makes use of the large catalogs of single nucleotide polymorphism SNP markers to maximize the chances of observing potentially discriminating alleles. We further reduce the amount of data required by taking advantage of patterns of linkage disequilibrium modeled by a reference panel of haplotypes to indirectly compare observations at pairs of linked SNPs. Using both coalescent simulations and real sequencing data from modern and ancient sources, we show that this approach is robust with respect to the reference panel and has power to detect positive identity from DNA libraries with less than 1 % random and non-overlapping genome coverage in each sample.

ConclusionWe present a powerful new approach that can determine whether DNA from two samples originated from the same individual even when only minute quantities of DNA are recoverable from each.

KeywordsForensics Ancient DNA Genomics AbbreviationsSTRshort tandem repeat

SNPsingle nucleotide polymorphism

LDlinkage disequilibrium

LLRlog-likelihood ratio

Electronic supplementary materialThe online version of this article doi:10.1186-s12864-015-2241-6 contains supplementary material, which is available to authorized users.

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Autor: Samuel H. Vohr - Carlos Fernando Buen Abad Najar - Beth Shapiro - Richard E. Green

Fuente: https://link.springer.com/

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