Format
Sort by

Send to

Choose Destination

Search results

Items: 2

  • Filters activated: Field: Title Word. Clear all
1.
Genome Biol Evol. 2017 Dec 1;9(12):3225-3237. doi: 10.1093/gbe/evx237.

The Diversity of REcent and Ancient huMan (DREAM): A New Microarray for Genetic Anthropology and Genealogy, Forensics, and Personalized Medicine.

Author information

1
Department of Animal and Plant Sciences, University of Sheffield, United Kingdom.
2
Independent researcher, Newick, United Kingdom.
3
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University.
4
Department of Biology, Lund University, Sweden.
5
National Geographic Society, Washington, District of Columbia.
6
Department of Computer Science, Southern Illinois University Edwardsville.
7
Thermo Fisher Scientific, Santa Clara, California.
8
DNA Diagnostics Center, Fairfield, Ohio.

Abstract

The human population displays wide variety in demographic history, ancestry, content of DNA derived from hominins or ancient populations, adaptation, traits, copy number variation, drug response, and more. These polymorphisms are of broad interest to population geneticists, forensics investigators, and medical professionals. Historically, much of that knowledge was gained from population survey projects. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism genotyping, their design specifications are limited and they do not allow a full exploration of biodiversity. We thereby aimed to design the Diversity of REcent and Ancient huMan (DREAM)-an all-inclusive microarray that would allow both identification of known associations and exploration of standing questions in genetic anthropology, forensics, and personalized medicine. DREAM includes probes to interrogate ancestry informative markers obtained from over 450 human populations, over 200 ancient genomes, and 10 archaic hominins. DREAM can identify 94% and 61% of all known Y and mitochondrial haplogroups, respectively, and was vetted to avoid interrogation of clinically relevant markers. To demonstrate its capabilities, we compared its FST distributions with those of the 1000 Genomes Project and commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, DREAM's autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. DREAM performances are further illustrated in biogeographical, identical by descent, and copy number variation analyses. In summary, with approximately 800,000 markers spanning nearly 2,000 genes, DREAM is a useful tool for genetic anthropology, forensic, and personalized medicine studies.

KEYWORDS:

CNVs; ancient DNA; archaic DNA; biogeography; forensics; population genetics

PMID:
29165562
PMCID:
PMC5726468
DOI:
10.1093/gbe/evx237
[Indexed for MEDLINE]
Free PMC Article
Icon for Silverchair Information Systems Icon for PubMed Central
2.
Cold Spring Harb Perspect Med. 2014 Jul 24;4(9):a008581. doi: 10.1101/cshperspect.a008581.

Personalized medicine and human genetic diversity.

Author information

1
Center for Human Genome Variation, Duke University, Durham, North Carolina 27708.
2
Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina 27708.
3
Molecular and Cellular Therapeutics, Royal College of Surgeons, Dublin 4, Ireland.

Abstract

Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally.

PMID:
25059740
PMCID:
PMC4143101
DOI:
10.1101/cshperspect.a008581
[Indexed for MEDLINE]
Free PMC Article
Icon for HighWire Icon for PubMed Central

Supplemental Content

Loading ...
Support Center