Ontology type: schema:ScholarlyArticle Open Access: True
2008-12
AUTHORSAdam B Olshen, Bert Gold, Kirk E Lohmueller, Jeffery P Struewing, Jaya Satagopan, Stefan A Stefanov, Eleazar Eskin, Tomas Kirchhoff, James A Lautenberger, Robert J Klein, Eitan Friedman, Larry Norton, Nathan A Ellis, Agnes Viale, Catherine S Lee, Patrick I Borgen, Andrew G Clark, Kenneth Offit, Jeff Boyd
ABSTRACTBACKGROUND: Genetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups. RESULTS: A small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ. CONCLUSION: LD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure. More... »
PAGES14
http://scigraph.springernature.com/pub.10.1186/1471-2156-9-14
DOIhttp://dx.doi.org/10.1186/1471-2156-9-14
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1035139277
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/18251999
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Chromosome Mapping",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gene Frequency",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Variation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Haplotypes",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Homozygote",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Jews",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Linkage Disequilibrium",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Principal Component Analysis",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Departments of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Olshen",
"givenName": "Adam B",
"id": "sg:person.01154314560.39",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154314560.39"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cancer Institute",
"id": "https://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Laboratories of Genomic Diversity, National Cancer Institute, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Gold",
"givenName": "Bert",
"id": "sg:person.0750357717.13",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750357717.13"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cornell University",
"id": "https://www.grid.ac/institutes/grid.5386.8",
"name": [
"Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA"
],
"type": "Organization"
},
"familyName": "Lohmueller",
"givenName": "Kirk E",
"id": "sg:person.01160277127.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160277127.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cancer Institute",
"id": "https://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Population Genetics, National Cancer Institute, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Struewing",
"givenName": "Jeffery P",
"id": "sg:person.016644441107.89",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016644441107.89"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Departments of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Satagopan",
"givenName": "Jaya",
"id": "sg:person.01252307143.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252307143.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cancer Institute",
"id": "https://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Laboratories of Genomic Diversity, National Cancer Institute, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Stefanov",
"givenName": "Stefan A",
"id": "sg:person.01201034717.54",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201034717.54"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of California, San Diego",
"id": "https://www.grid.ac/institutes/grid.266100.3",
"name": [
"Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA"
],
"type": "Organization"
},
"familyName": "Eskin",
"givenName": "Eleazar",
"id": "sg:person.01014741640.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014741640.26"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Kirchhoff",
"givenName": "Tomas",
"id": "sg:person.0764646574.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764646574.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cancer Institute",
"id": "https://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Laboratories of Genomic Diversity, National Cancer Institute, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Lautenberger",
"givenName": "James A",
"id": "sg:person.01216737033.29",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216737033.29"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Programs in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Klein",
"givenName": "Robert J",
"id": "sg:person.01052702045.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052702045.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Tel Aviv University",
"id": "https://www.grid.ac/institutes/grid.12136.37",
"name": [
"Chaim Sheba Medical Center, Tel-Hashomer, and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"
],
"type": "Organization"
},
"familyName": "Friedman",
"givenName": "Eitan",
"id": "sg:person.0776053413.72",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776053413.72"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Norton",
"givenName": "Larry",
"id": "sg:person.0750405610.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750405610.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Chicago",
"id": "https://www.grid.ac/institutes/grid.170205.1",
"name": [
"Department of Medicine, University of Chicago, Chicago, IL, USA"
],
"type": "Organization"
},
"familyName": "Ellis",
"givenName": "Nathan A",
"id": "sg:person.01342274700.37",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342274700.37"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Molecular Biology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Viale",
"givenName": "Agnes",
"id": "sg:person.0712021032.88",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712021032.88"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Lee",
"givenName": "Catherine S",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Borgen",
"givenName": "Patrick I",
"id": "sg:person.01277375343.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277375343.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cornell University",
"id": "https://www.grid.ac/institutes/grid.5386.8",
"name": [
"Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA"
],
"type": "Organization"
},
"familyName": "Clark",
"givenName": "Andrew G",
"id": "sg:person.01072105370.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072105370.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Offit",
"givenName": "Kenneth",
"id": "sg:person.01204667562.29",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204667562.29"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Memorial Sloan Kettering Cancer Center",
"id": "https://www.grid.ac/institutes/grid.51462.34",
"name": [
"Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA",
"Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Boyd",
"givenName": "Jeff",
"id": "sg:person.012622614242.38",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012622614242.38"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1093/hmg/ddi493",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000512613"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/ddg088",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001012423"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ygeno.2006.04.004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004618691"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00054725-200005000-00001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006853555"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00054725-200005000-00001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006853555"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00054725-200005000-00001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006853555"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/bioinformatics/bth457",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008081196"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.1069424",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010139737"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg1522",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011092335",
"https://doi.org/10.1038/nrg1522"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg1522",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011092335",
"https://doi.org/10.1038/nrg1522"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/biostatistics/kxh008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014431182"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature04226",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017293702",
"https://doi.org/10.1038/nature04226"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature04226",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017293702",
"https://doi.org/10.1038/nature04226"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature04226",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017293702",
"https://doi.org/10.1038/nature04226"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1770",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017509144",
"https://doi.org/10.1038/ng1770"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1770",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017509144",
"https://doi.org/10.1038/ng1770"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1046/j.1365-2133.2001.04496.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018629673"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg1521",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022754728",
"https://doi.org/10.1038/nrg1521"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg1521",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022754728",
"https://doi.org/10.1038/nrg1521"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/gr.4244005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022794163"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1046/j.1365-2370.1999.00166.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025138778"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0168-9525(98)01556-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025997472"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.96.4.1170",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027466328"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.0030236",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027655636"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0168-9525(01)02550-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028714464"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1847",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031429813",
"https://doi.org/10.1038/ng1847"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1847",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031429813",
"https://doi.org/10.1038/ng1847"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5201156",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033304597",
"https://doi.org/10.1038/sj.ejhg.5201156"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5201156",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033304597",
"https://doi.org/10.1038/sj.ejhg.5201156"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5201319",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033588519",
"https://doi.org/10.1038/sj.ejhg.5201319"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5201319",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033588519",
"https://doi.org/10.1038/sj.ejhg.5201319"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ijc.11415",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033858967"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1098/rstb.2005.1689",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034501368"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/gr.4326505",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035209880"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gepi.20101",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037908524"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gepi.20101",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037908524"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1471-2105-9-s9-s17",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039235772",
"https://doi.org/10.1186/1471-2105-9-s9-s17"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/bioinformatics/bti741",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040127778"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.100115997",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040175406"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.0020143",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041534153"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00296-003-0325-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043685001",
"https://doi.org/10.1007/s00296-003-0325-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00296-003-0325-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043685001",
"https://doi.org/10.1007/s00296-003-0325-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10689-004-9544-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044162768",
"https://doi.org/10.1007/s10689-004-9544-0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/bioinformatics/bth149",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047526992"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1469-1809.1993.tb00886.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047925569"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-04-1411",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049050817"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng2075",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049470927",
"https://doi.org/10.1038/ng2075"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/421051",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049950502"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/380416",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050483221"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/282771",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058592894"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/302661",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058610229"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/339258",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058638174"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/373882",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058668441"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/373882",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058668441"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/379926",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058672409"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/423146",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058712945"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/429864",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058716362"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/432962",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058717825"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/432962",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058717825"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1142/s0219720003000174",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063004509"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1077175757",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1081845077",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082603458",
"type": "CreativeWork"
}
],
"datePublished": "2008-12",
"datePublishedReg": "2008-12-01",
"description": "BACKGROUND: Genetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups.\nRESULTS: A small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ.\nCONCLUSION: LD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.",
"genre": "research_article",
"id": "sg:pub.10.1186/1471-2156-9-14",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.2421618",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1024251",
"issn": [
"1471-2156"
],
"name": "BMC Genetics",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "9"
}
],
"name": "Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping",
"pagination": "14",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"a7640af77b8c0c17cded8e75abe415c5482d8f0f871a1d8329711e67f997abd1"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"18251999"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"100966978"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1186/1471-2156-9-14"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1035139277"
]
}
],
"sameAs": [
"https://doi.org/10.1186/1471-2156-9-14",
"https://app.dimensions.ai/details/publication/pub.1035139277"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T18:26",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8675_00000550.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1186%2F1471-2156-9-14"
}
]Download the RDF metadata as:Â json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-9-14'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-9-14'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-9-14'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-9-14'
This table displays all metadata directly associated to this object as RDF triples.
418 TRIPLES
21 PREDICATES
90 URIs
33 LITERALS
21 BLANK NODES