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
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- 作者：Brendan Keating (1)
Aruna T. Bansal (2)
Susan Walsh (3)
Jonathan Millman (4)
Jonathan Newman (4)
Kenneth Kidd (5)
Bruce Budowle (6)
Arthur Eisenberg (6)
Joseph Donfack (7)
Paolo Gasparini (8)
Zoran Budimlija (9)
Anjali K. Henders (10)
Hareesh Chandrupatla (11)
David L. Duffy (10)
Scott D. Gordon (10)
Pirro Hysi (12)
Fan Liu (3)
Sarah E. Medland (10)
Laurence Rubin (2)
Nicholas G. Martin (10)
Timothy D. Spector (12)
Manfred Kayser (3) - 关键词：DNA intelligence ; Forensic DNA phenotyping ; SNP ; Prediction ; Relatedness ; Kinship ; Ancestry ; Eye color ; Hair color ; Sex
- 刊名：International Journal of Legal Medicine
- 出版年：2013
- 出版时间：May 2013
- 年：2013
- 卷：127
- 期：3
- 页码：559-572
- 全文大小：381KB
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Aruna T. Bansal (2)
Susan Walsh (3)
Jonathan Millman (4)
Jonathan Newman (4)
Kenneth Kidd (5)
Bruce Budowle (6)
Arthur Eisenberg (6)
Joseph Donfack (7)
Paolo Gasparini (8)
Zoran Budimlija (9)
Anjali K. Henders (10)
Hareesh Chandrupatla (11)
David L. Duffy (10)
Scott D. Gordon (10)
Pirro Hysi (12)
Fan Liu (3)
Sarah E. Medland (10)
Laurence Rubin (2)
Nicholas G. Martin (10)
Timothy D. Spector (12)
Manfred Kayser (3)
1. The University of Pennsylvania, Office 1016, Abramson Building, 3615 Civic Center Bvld., Philadelphia, PA, 19104-4399, USA
2. Identitas Inc., 1115 Broadway, 12th Floor, New York, NY, 10010, USA
3. Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
4. Centre of Forensic Sciences, 25 Grosvenor Street, Toronto, ON, M7A 2G8, Canada
5. Yale University School of Medicine, PO Box 208005, New Haven, CT, 06520-8005, USA
6. Institute of Applied Genetics, Department of Forensic and Investigative Genetics, University North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX, 76107, USA
7. Laboratory Division, Federal Bureau of Investigation, 2501 Investigation Parkway, Quantico, VA, 22135, USA
8. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, University of Trieste, Piazzale Europa1, 34127, Trieste, Italy
9. New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016, USA
10. Queensland Institute of Medical Research, Royal Brisbane Hospital, Locked Bag 2000, Herston, Brisbane, Queensland, 4029, Australia
11. Anjin Solutions, 34 Downing Lane, Voorhees, NJ, 08043, USA
12. Department of Twin Research, King’s College London, St. Thomas-Hospital, Westminster Bridge Road, London, SE1 7EH, UK - ISSN：1437-1596
文摘
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.