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First all-in-one diagnostic tool for DNA intelligence: Genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip

Keating, Brendan
•
Bansal, Aruna T.
•
Walsh, Susan
altro
Kayser, Manfred
2013
  • journal article

Periodico
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Abstract
When a forensic DNA sample cannot be associated directly with a previously genotyped reference sample by standard short tandem repeat profiling, the investigation required for identifying perpetrators, victims, or missing persons can be both costly and time consuming. Here, we describe the outcome of a collaborative study using the Identitas Version 1 (v1) Forensic Chip, the first commercially available all-in-one tool dedicated to the concept of developing intelligence leads based on DNA. The chip allows parallel interrogation of 201,173 genome-wide autosomal, X-chromosomal, Y-chromosomal, and mitochondrial single nucleotide polymorphisms for inference of biogeographic ancestry, appearance, relatedness, and sex. The first assessment of the chip's performance was carried out on 3,196 blinded DNA samples of varying quantities and qualities, covering a wide range of biogeographic origin and eye/hair coloration as well as variation in relatedness and sex. Overall, 95 % of the samples (N = 3,034) passed quality checks with an overall genotype call rate >90 % on variable numbers of available recorded trait information. Predictions of sex, direct match, and first to third degree relatedness were highly accurate. Chip-based predictions of biparental continental ancestry were on average ~94 % correct (further support provided by separately inferred patrilineal and matrilineal ancestry). Predictions of eye color were 85 % correct for brown and 70 % correct for blue eyes, and predictions of hair color were 72 % for brown, 63 % for blond, 58 % for black, and 48 % for red hair. From the 5 % of samples (N = 162) with <90 % call rate, 56 % yielded correct continental ancestry predictions while 7 % yielded sufficient genotypes to allow hair and eye color prediction. Our results demonstrate that the Identitas v1 Forensic Chip holds great promise for a wide range of applications including criminal investigations, missing person investigations, and for national security purposes.
DOI
10.1007/s00414-012-0788-1
WOS
WOS:000318247100004
Archivio
http://hdl.handle.net/11368/2935126
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84877873104
Diritti
metadata only access
Soggetti
  • Ancestry

  • DNA intelligence

  • Eye color

  • Forensic DNA phenotyp...

  • Hair color

  • Kinship

  • Prediction

  • Relatedne

  • Sex

  • SNP

  • Continental Populatio...

  • DNA Fingerprinting

  • Eye Color

  • Feasibility Studie

  • Female

  • Forensic Genetic

  • Hair Color

  • Human

  • Logistic Model

  • Male

  • Multivariate Analysi

  • Phenotype

  • Polymorphism, Single ...

  • Sensitivity and Speci...

  • Sex

  • Single-Blind Method

  • Genome-Wide Associati...

  • 2734

Scopus© citazioni
37
Data di acquisizione
Jun 14, 2022
Vedi dettagli
Web of Science© citazioni
36
Data di acquisizione
Mar 21, 2024
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