The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation

The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of allergy and clinical immunology 2021-02, Vol.147 (2), p.492-494
1. Verfasser: Sullivan, Kathleen E.
Format: Artikel
Sprache:eng
Schlagworte:
diagnosis
NBS
SCID
variants of uncertain significance
Whole-exome sequencing
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 494
container_issue 2
container_start_page 492
container_title Journal of allergy and clinical immunology
container_volume 147
creator Sullivan, Kathleen E.
description
doi_str_mv 10.1016/j.jaci.2020.06.011
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2419094825</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0091674920308885</els_id><sourcerecordid>2419094825</sourcerecordid><originalsourceid>FETCH-LOGICAL-c400t-6946a0c35271715423a8b8799a3e4c7f8e2d1340e5d9e3a320e531a2cac98d1c3</originalsourceid><addsrcrecordid>eNp9kE1OHDEQhS0UFAaSC7BAXpJFd8p2_xllgxA_kZCyALK1jLuaqWGme7DdROy4BjvOwlFyEjwaYMmqXpXee1J9jO0KyAWI6ucsn1lHuQQJOVQ5CLHBJgJ0nVWNLL-wCYAWWVUXeotthzCDtKtGf2VbSpa6aXQ9Yd3lFHlw1j_wf4Oft3zo-L31ZPsYVnrsHfpoqeeBbnrqyNl04ft_ry5-HPDDl-cpRTed0i36_49Pgd-M1CKPA6c-ol96jDbS0H9jm52dB_z-NnfY1cnx5dFZdv7n9PfR4XnmCoCYVbqoLDhVylrUoiykss11U2ttFRau7hqUrVAFYNlqVFbJpJSw0lmnm1Y4tcP2171LP9yNGKJZUHA4n9sehzEYWQgNukh4klWurc4PIXjszNLTIoEwAsyKr5mZFV-z4mugMolvCu299Y_XC2w_Iu9Ak-HX2oDpy3tCb4IjTMha8uiiaQf6rP8VEdSNZA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2419094825</pqid></control><display><type>article</type><title>The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation</title><source>Elsevier ScienceDirect Journals</source><creator>Sullivan, Kathleen E.</creator><creatorcontrib>Sullivan, Kathleen E.</creatorcontrib><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2020.06.011</identifier><identifier>PMID: 32598897</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>diagnosis ; NBS ; SCID ; variants of uncertain significance ; Whole-exome sequencing</subject><ispartof>Journal of allergy and clinical immunology, 2021-02, Vol.147 (2), p.492-494</ispartof><rights>2020 American Academy of Allergy, Asthma &amp; Immunology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-6946a0c35271715423a8b8799a3e4c7f8e2d1340e5d9e3a320e531a2cac98d1c3</citedby><cites>FETCH-LOGICAL-c400t-6946a0c35271715423a8b8799a3e4c7f8e2d1340e5d9e3a320e531a2cac98d1c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0091674920308885$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32598897$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sullivan, Kathleen E.</creatorcontrib><title>The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><subject>diagnosis</subject><subject>NBS</subject><subject>SCID</subject><subject>variants of uncertain significance</subject><subject>Whole-exome sequencing</subject><issn>0091-6749</issn><issn>1097-6825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp9kE1OHDEQhS0UFAaSC7BAXpJFd8p2_xllgxA_kZCyALK1jLuaqWGme7DdROy4BjvOwlFyEjwaYMmqXpXee1J9jO0KyAWI6ucsn1lHuQQJOVQ5CLHBJgJ0nVWNLL-wCYAWWVUXeotthzCDtKtGf2VbSpa6aXQ9Yd3lFHlw1j_wf4Oft3zo-L31ZPsYVnrsHfpoqeeBbnrqyNl04ft_ry5-HPDDl-cpRTed0i36_49Pgd-M1CKPA6c-ol96jDbS0H9jm52dB_z-NnfY1cnx5dFZdv7n9PfR4XnmCoCYVbqoLDhVylrUoiykss11U2ttFRau7hqUrVAFYNlqVFbJpJSw0lmnm1Y4tcP2171LP9yNGKJZUHA4n9sehzEYWQgNukh4klWurc4PIXjszNLTIoEwAsyKr5mZFV-z4mugMolvCu299Y_XC2w_Iu9Ak-HX2oDpy3tCb4IjTMha8uiiaQf6rP8VEdSNZA</recordid><startdate>202102</startdate><enddate>202102</enddate><creator>Sullivan, Kathleen E.</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>202102</creationdate><title>The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation</title><author>Sullivan, Kathleen E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c400t-6946a0c35271715423a8b8799a3e4c7f8e2d1340e5d9e3a320e531a2cac98d1c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>diagnosis</topic><topic>NBS</topic><topic>SCID</topic><topic>variants of uncertain significance</topic><topic>Whole-exome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sullivan, Kathleen E.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of allergy and clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sullivan, Kathleen E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation</atitle><jtitle>Journal of allergy and clinical immunology</jtitle><addtitle>J Allergy Clin Immunol</addtitle><date>2021-02</date><risdate>2021</risdate><volume>147</volume><issue>2</issue><spage>492</spage><epage>494</epage><pages>492-494</pages><issn>0091-6749</issn><eissn>1097-6825</eissn><cop>United States</cop><pub>Elsevier Inc</pub><pmid>32598897</pmid><doi>10.1016/j.jaci.2020.06.011</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 0091-6749
ispartof Journal of allergy and clinical immunology, 2021-02, Vol.147 (2), p.492-494
issn 0091-6749
1097-6825
language eng
recordid cdi_proquest_miscellaneous_2419094825
source Elsevier ScienceDirect Journals
subjects diagnosis
NBS
SCID
variants of uncertain significance
Whole-exome sequencing
title The scary world of variants of uncertain significance (VUS): A hitchhiker’s guide to interpretation
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T01%3A10%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20scary%20world%20of%20variants%20of%20uncertain%20significance%20(VUS):%20A%C2%A0hitchhiker%E2%80%99s%20guide%20to%20interpretation&rft.jtitle=Journal%20of%20allergy%20and%20clinical%20immunology&rft.au=Sullivan,%20Kathleen%20E.&rft.date=2021-02&rft.volume=147&rft.issue=2&rft.spage=492&rft.epage=494&rft.pages=492-494&rft.issn=0091-6749&rft.eissn=1097-6825&rft_id=info:doi/10.1016/j.jaci.2020.06.011&rft_dat=%3Cproquest_cross%3E2419094825%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2419094825&rft_id=info:pmid/32598897&rft_els_id=S0091674920308885&rfr_iscdi=true