Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Li, Jun Z.; Absher, Devin; Tang, Hua; Southwick, Audrey; Casto, Amanda M.; Ramachandran, Sohini; Cann, Howard M.; Barsh, Gregory S.; Feldman, Marcus W.; Cavalli-Sforza, Luigi Luca; Myers, R

doi:10.1126/science.1153717

Cited by 1,827 publications

(2,125 citation statements)

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“…10 A second comparative data set was obtained from the Human Genome Diversity Panel (HGDP-CEPH), containing 938 unrelated individuals originating from 51 global populations. [11][12][13] …”

Section: Subjects and Comparative Datasetsmentioning

confidence: 99%

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

et al. 2014

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Consanguineous marriages have been widely practiced in several global communities with varying rates depending on religion, culture, and geography. In consanguineous marriages, parents pass to their children autozygous segments known as homozygous by descent segments. In this study, single-nucleotide polymorphisms were analyzed in 165 unrelated Lebanese people from Greek Orthodox, Maronite, Shiite and Sunni communities. Runs of homozygosity, total inbreeding levels, remote consanguinity, and population admixture and structure were estimated. The inbreeding coefficient value was estimated to be 1.61% in offspring of unrelated parents over three generations and 8.33% in offspring of first cousins. From these values, remote consanguinity values, resulting from genetic drift or recurrent consanguineous unions, were estimated in offspring of unrelated and first-cousin parents to be 0.61 and 1.2%, respectively. This remote consanguinity value suggests that for any unrelated marriages in Lebanon, the mates could be related as third cousins or as second cousins once removed. Under the assumption that 25% of marriages occur between first cousins, the mean inbreeding value of 2.3% may explain the increased incidence of recessive disease in offspring. Our analysis reveals a common ancestral population in the four Lebanese communities we studied.

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“…10 A second comparative data set was obtained from the Human Genome Diversity Panel (HGDP-CEPH), containing 938 unrelated individuals originating from 51 global populations. [11][12][13] …”

Section: Subjects and Comparative Datasetsmentioning

confidence: 99%

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

et al. 2014

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“…We therefore believe that signatures of this event would be correctly identified using modern dense genotype data. 34 By using northern Italian and Mozabite samples recently genotyped for a large SNP autosomal dataset 35 as the best available proxy of Italian and northern African populations, we estimated that about 41.5% of more than 640 000 genotyped SNPs showed an absolute allele frequency difference of at least 10% between the two groups. Such frequency differences (and sometimes even smaller) between cases and controls characterized the vast majority of the inferred disease-causing SNPs in a recent genome-wide investigation.…”

Section: Resultsmentioning

confidence: 99%

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

et al. 2009

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To investigate the male genetic legacy of the Arab rule in southern Europe during medieval times, we focused on specific Northwest African haplogroups and identified evolutionary close STR-defined haplotypes in Iberia, Sicily and the Italian peninsula. Our results point to a higher recent Northwest African contribution in Iberia and Sicily in agreement with historical data. southern Italian regions known to have experienced long-term Arab presence also show an enrichment of Northwest African types. The forensic and genomic implications of these findings are discussed.

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“…In brief, genotypes of 1783 ancestry-informative markers (AIMs) were used to determine a subject's ancestry at the continental level for the 7 geographic regions Africa, Middle East, Europe, Central/South Asia, East Asia, Americas, and Oceania. Ancestry estimates were determined using STRUCTURE v2.3.2.1 (Falush et al, 2003) at K = 7, including prior population information of the HGDP reference set (Li et al, 2008). To preserve power for the GWAS and reduce type I errors due to population stratification, we aimed to place subjects into large, homogenous groups (European-Americans, EA, N = 2179) and groups with simple one-way admixture GWAS was performed separately in each of the 4 main ancestral groups.…”

Section: Ancestry Assessment and Control For Genetic Background Hetermentioning

confidence: 99%