Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations
In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large nu...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1997-10, Vol.61 (4), p.830-842 |
|---|---|
| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 842 |
|---|---|
| container_issue | 4 |
| container_start_page | 830 |
| container_title | American journal of human genetics |
| container_volume | 61 |
| creator | Durham, L. Kathryn Feingold, Eleanor |
| description | In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large number of comparisons that are performed when scanning a large portion of the genome. We consider both the idealized situation of a dense set of fully informative markers and the more realistic data-collection strategy of an initial scan at low resolution to identify promising areas, which then are typed with markers at high resolution. We also examine the accuracy of false-positive rates approximated using a conservative estimate of the separation distance between affected individuals in the current generation and the common ancestral couple. Calculation of false-positive rates when inbreeding is present in the pedigree also is considered. |
| doi_str_mv | 10.1086/514891 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1715979</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929707641901</els_id><sourcerecordid>79389863</sourcerecordid><originalsourceid>FETCH-LOGICAL-c431t-ce43d6de479e2400a9217efdaa221db58e2847f69b7632dff66ca2210a86e7c63</originalsourceid><addsrcrecordid>eNpdkctuEzEUhq2KqqSFvgGSF4jdUF9mfNkgoZaWSJVABNaWY59JXM3YwZ5E6tvjKFEKrKzf_3fuCF1T8pESJW462ipNz9CMdlw2QpDuFZoRQlijmZav0WUpT4RQqgi_QBeaK0Y0n6H1A8Q0Al44G2OIK9ynjBewGiFOBS_WNoPHc19VcHbAy2d8B8VVie2YKn4XymSr-gGDncIOCg4Rz0uqqgZ-T5vt_j_F8gad93Yo8Pb4XqFf919-3n5tHr89zG8_Pzau5XRqHLTcCw-t1MBaQqxmVELvrWWM-mWngKlW9kIvpeDM970Qbm8RqwRIJ_gV-nTIu9kuR_D7VrMdzCaH0eZnk2ww_zoxrM0q7QyVtNNS1wQfjgly-r2FMpkx1ImHwUZI22IqorQS_AV0OZWSoT8VocTsb2ION6ngu79bOmHHI1T__dG3pS65zza6UE5YHZgpqSpGDhjU9e0CZFNcgOjAhwxuMj6F_yv_AWq0pQ8</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79389863</pqid></control><display><type>article</type><title>Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations</title><source>MEDLINE</source><source>Cell Press Free Archives</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Access via ScienceDirect (Elsevier)</source><source>PubMed Central</source><creator>Durham, L. Kathryn ; Feingold, Eleanor</creator><creatorcontrib>Durham, L. Kathryn ; Feingold, Eleanor</creatorcontrib><description>In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large number of comparisons that are performed when scanning a large portion of the genome. We consider both the idealized situation of a dense set of fully informative markers and the more realistic data-collection strategy of an initial scan at low resolution to identify promising areas, which then are typed with markers at high resolution. We also examine the accuracy of false-positive rates approximated using a conservative estimate of the separation distance between affected individuals in the current generation and the common ancestral couple. Calculation of false-positive rates when inbreeding is present in the pedigree also is considered.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/514891</identifier><identifier>PMID: 9382093</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Alleles ; Biological and medical sciences ; Chromosomes, Human ; Classical genetics, quantitative genetics, hybrids ; Computerized, statistical medical data processing and models in biomedicine ; Consanguinity ; False Positive Reactions ; Family ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic Diseases, Inborn - genetics ; Genetic Linkage ; Genetic Techniques ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human ; Humans ; Male ; Medical sciences ; Medical statistics ; Methods, theories and miscellaneous ; Models, Genetic ; Pedigree ; Probability</subject><ispartof>American journal of human genetics, 1997-10, Vol.61 (4), p.830-842</ispartof><rights>1997 The American Society of Human Genetics</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-ce43d6de479e2400a9217efdaa221db58e2847f69b7632dff66ca2210a86e7c63</citedby><cites>FETCH-LOGICAL-c431t-ce43d6de479e2400a9217efdaa221db58e2847f69b7632dff66ca2210a86e7c63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715979/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/514891$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,886,3551,27929,27930,46000,53796,53798</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2842878$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9382093$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Durham, L. Kathryn</creatorcontrib><creatorcontrib>Feingold, Eleanor</creatorcontrib><title>Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large number of comparisons that are performed when scanning a large portion of the genome. We consider both the idealized situation of a dense set of fully informative markers and the more realistic data-collection strategy of an initial scan at low resolution to identify promising areas, which then are typed with markers at high resolution. We also examine the accuracy of false-positive rates approximated using a conservative estimate of the separation distance between affected individuals in the current generation and the common ancestral couple. Calculation of false-positive rates when inbreeding is present in the pedigree also is considered.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Computerized, statistical medical data processing and models in biomedicine</subject><subject>Consanguinity</subject><subject>False Positive Reactions</subject><subject>Family</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Diseases, Inborn - genetics</subject><subject>Genetic Linkage</subject><subject>Genetic Techniques</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medical statistics</subject><subject>Methods, theories and miscellaneous</subject><subject>Models, Genetic</subject><subject>Pedigree</subject><subject>Probability</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkctuEzEUhq2KqqSFvgGSF4jdUF9mfNkgoZaWSJVABNaWY59JXM3YwZ5E6tvjKFEKrKzf_3fuCF1T8pESJW462ipNz9CMdlw2QpDuFZoRQlijmZav0WUpT4RQqgi_QBeaK0Y0n6H1A8Q0Al44G2OIK9ynjBewGiFOBS_WNoPHc19VcHbAy2d8B8VVie2YKn4XymSr-gGDncIOCg4Rz0uqqgZ-T5vt_j_F8gad93Yo8Pb4XqFf919-3n5tHr89zG8_Pzau5XRqHLTcCw-t1MBaQqxmVELvrWWM-mWngKlW9kIvpeDM970Qbm8RqwRIJ_gV-nTIu9kuR_D7VrMdzCaH0eZnk2ww_zoxrM0q7QyVtNNS1wQfjgly-r2FMpkx1ImHwUZI22IqorQS_AV0OZWSoT8VocTsb2ION6ngu79bOmHHI1T__dG3pS65zza6UE5YHZgpqSpGDhjU9e0CZFNcgOjAhwxuMj6F_yv_AWq0pQ8</recordid><startdate>19971001</startdate><enddate>19971001</enddate><creator>Durham, L. Kathryn</creator><creator>Feingold, Eleanor</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19971001</creationdate><title>Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations</title><author>Durham, L. Kathryn ; Feingold, Eleanor</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c431t-ce43d6de479e2400a9217efdaa221db58e2847f69b7632dff66ca2210a86e7c63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Computerized, statistical medical data processing and models in biomedicine</topic><topic>Consanguinity</topic><topic>False Positive Reactions</topic><topic>Family</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Diseases, Inborn - genetics</topic><topic>Genetic Linkage</topic><topic>Genetic Techniques</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome, Human</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medical statistics</topic><topic>Methods, theories and miscellaneous</topic><topic>Models, Genetic</topic><topic>Pedigree</topic><topic>Probability</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Durham, L. Kathryn</creatorcontrib><creatorcontrib>Feingold, Eleanor</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Durham, L. Kathryn</au><au>Feingold, Eleanor</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1997-10-01</date><risdate>1997</risdate><volume>61</volume><issue>4</issue><spage>830</spage><epage>842</epage><pages>830-842</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large number of comparisons that are performed when scanning a large portion of the genome. We consider both the idealized situation of a dense set of fully informative markers and the more realistic data-collection strategy of an initial scan at low resolution to identify promising areas, which then are typed with markers at high resolution. We also examine the accuracy of false-positive rates approximated using a conservative estimate of the separation distance between affected individuals in the current generation and the common ancestral couple. Calculation of false-positive rates when inbreeding is present in the pedigree also is considered.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>9382093</pmid><doi>10.1086/514891</doi><tpages>13</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1997-10, Vol.61 (4), p.830-842 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1715979 |
| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Access via ScienceDirect (Elsevier); PubMed Central |
| subjects | Alleles Biological and medical sciences Chromosomes, Human Classical genetics, quantitative genetics, hybrids Computerized, statistical medical data processing and models in biomedicine Consanguinity False Positive Reactions Family Female Fundamental and applied biological sciences. Psychology Genetic Diseases, Inborn - genetics Genetic Linkage Genetic Techniques Genetics of eukaryotes. Biological and molecular evolution Genome, Human Humans Male Medical sciences Medical statistics Methods, theories and miscellaneous Models, Genetic Pedigree Probability |
| title | Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-15T20%3A55%3A35IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genome%20Scanning%20for%20Segments%20Shared%20Identical%20by%20Descent%20among%20Distant%20Relatives%20in%20Isolated%20Populations&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Durham,%20L.%20Kathryn&rft.date=1997-10-01&rft.volume=61&rft.issue=4&rft.spage=830&rft.epage=842&rft.pages=830-842&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/10.1086/514891&rft_dat=%3Cproquest_pubme%3E79389863%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=79389863&rft_id=info:pmid/9382093&rft_els_id=S0002929707641901&rfr_iscdi=true |