Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study
Purpose: Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care. Methods: One hundred sixty-five adults with metastatic colorect...
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| Veröffentlicht in: | Genetics in medicine 2017-07, Vol.19 (7), p.787-795 |
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| creator | Ghazani, Arezou A. Oliver, Nelly M. St. Pierre, Joseph P. Garofalo, Andrea Rainville, Irene R. Hiller, Elaine Treacy, Daniel J. Rojas-Rudilla, Vanesa Wood, Sam Bair, Elizabeth Parello, Michael Huang, Franklin Giannakis, Marios Wilson, Frederick H. Stover, Elizabeth H. Corsello, Steven M. Nguyen, Tom Rana, Huma Q. Church, Alanna J. Lowenstein, Carol Cibulskis, Carrie Amin-Mansour, Ali Heng, Jennifer Brais, Lauren Santos, Abigail Bauer, Patrick Waldron, Amanda Lo, Peter Gorman, Megan Lydon, Christine A. Welch, Marisa McNamara, Philip Gabriel, Stacey Sholl, Lynette M. Lindeman, Neal I. Garber, Judy E. Joffe, Steven Van Allen, Eliezer M. Gray, Stacy W. Jänne, Pasi A. Garraway, Levi A. Wagle, Nikhil |
| description | Purpose:
Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care.
Methods:
One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences.
Results:
At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach.
Conclusion:
The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.
Genet Med
advance online publication 26 January 2017 |
| doi_str_mv | 10.1038/gim.2016.191 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1862282084</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1918612026</sourcerecordid><originalsourceid>FETCH-LOGICAL-c395t-4214371c13f127852164836dff4efc1e4e89c582278c4f00bf6daabf104e50b83</originalsourceid><addsrcrecordid>eNptkc1P3DAQxa0KVCjtrWdkiUsPzXbGTrzeI1r1S0LiAufI64y3RomzjZMCt_7pTFhaIcTJ1szPb8bvCfERYYGg7Zdt7BYK0CxwhW_EMVYaCtDGHPAdVrbQBuBIvMv5BgCXWsFbcaQsqgqW1bH4e55z3KaYttK3MUXvWtmReyyMvcx958bopUuN3NLQFcyQvP3Vt1TQXd-RzPR7ouRnvnGjkzFJJ3dDn3fkx_iHpHfJ08Al8jHHPrF8E_0sk8epuX8vDoNrM314Ok_E9bevV-sfxcXl95_r84vC61U1FqXCUi_Row6olrZSaEqrTRNCScEjlWRXvrKKe74MAJtgGuc2AaGkCjZWn4hPe13ejTfOY93F7KltXaJ-yjVao5RVYEtGz16gN_00JN6uZo-tQQXKMPV5T3n-bB4o1Lshdm64rxHqOZmak6nnZOZXjJ8-iU4bduA__C8KBoo9kLmV2OxnU18TfAD-iZkp</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1918612026</pqid></control><display><type>article</type><title>Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Ghazani, Arezou A. ; Oliver, Nelly M. ; St. Pierre, Joseph P. ; Garofalo, Andrea ; Rainville, Irene R. ; Hiller, Elaine ; Treacy, Daniel J. ; Rojas-Rudilla, Vanesa ; Wood, Sam ; Bair, Elizabeth ; Parello, Michael ; Huang, Franklin ; Giannakis, Marios ; Wilson, Frederick H. ; Stover, Elizabeth H. ; Corsello, Steven M. ; Nguyen, Tom ; Rana, Huma Q. ; Church, Alanna J. ; Lowenstein, Carol ; Cibulskis, Carrie ; Amin-Mansour, Ali ; Heng, Jennifer ; Brais, Lauren ; Santos, Abigail ; Bauer, Patrick ; Waldron, Amanda ; Lo, Peter ; Gorman, Megan ; Lydon, Christine A. ; Welch, Marisa ; McNamara, Philip ; Gabriel, Stacey ; Sholl, Lynette M. ; Lindeman, Neal I. ; Garber, Judy E. ; Joffe, Steven ; Van Allen, Eliezer M. ; Gray, Stacy W. ; Jänne, Pasi A. ; Garraway, Levi A. ; Wagle, Nikhil</creator><creatorcontrib>Ghazani, Arezou A. ; Oliver, Nelly M. ; St. Pierre, Joseph P. ; Garofalo, Andrea ; Rainville, Irene R. ; Hiller, Elaine ; Treacy, Daniel J. ; Rojas-Rudilla, Vanesa ; Wood, Sam ; Bair, Elizabeth ; Parello, Michael ; Huang, Franklin ; Giannakis, Marios ; Wilson, Frederick H. ; Stover, Elizabeth H. ; Corsello, Steven M. ; Nguyen, Tom ; Rana, Huma Q. ; Church, Alanna J. ; Lowenstein, Carol ; Cibulskis, Carrie ; Amin-Mansour, Ali ; Heng, Jennifer ; Brais, Lauren ; Santos, Abigail ; Bauer, Patrick ; Waldron, Amanda ; Lo, Peter ; Gorman, Megan ; Lydon, Christine A. ; Welch, Marisa ; McNamara, Philip ; Gabriel, Stacey ; Sholl, Lynette M. ; Lindeman, Neal I. ; Garber, Judy E. ; Joffe, Steven ; Van Allen, Eliezer M. ; Gray, Stacy W. ; Jänne, Pasi A. ; Garraway, Levi A. ; Wagle, Nikhil</creatorcontrib><description>Purpose:
Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care.
Methods:
One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences.
Results:
At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach.
Conclusion:
The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.
Genet Med
advance online publication 26 January 2017</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2016.191</identifier><identifier>PMID: 28125075</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/1516 ; 631/208/514 ; 631/208/69 ; Adenocarcinoma - genetics ; Adenocarcinoma of Lung ; Adult ; Biomedical and Life Sciences ; Biomedicine ; Cancer ; Colorectal Neoplasms - genetics ; Databases, Genetic ; Exome - genetics ; Genomics - methods ; Germ-Line Mutation - genetics ; High-Throughput Nucleotide Sequencing - methods ; Human Genetics ; Humans ; Laboratory Medicine ; Lung cancer ; Lung Neoplasms - genetics ; Mutation - genetics ; original-research-article ; Precision Medicine - methods ; Prospective Studies ; Sequence Analysis, DNA - methods ; Whole Exome Sequencing - methods</subject><ispartof>Genetics in medicine, 2017-07, Vol.19 (7), p.787-795</ispartof><rights>American College of Medical Genetics and Genomics 2017</rights><rights>Copyright Nature Publishing Group Jul 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c395t-4214371c13f127852164836dff4efc1e4e89c582278c4f00bf6daabf104e50b83</citedby><cites>FETCH-LOGICAL-c395t-4214371c13f127852164836dff4efc1e4e89c582278c4f00bf6daabf104e50b83</cites><orcidid>0000-0002-1962-9963 ; 0000-0001-9279-6824 ; 0000-0002-1598-6752 ; 0000-0003-0548-1328 ; 0000-0002-9532-9735 ; 0000-0003-0593-8869 ; 0000-0001-6948-0143 ; 0000-0002-7821-4928 ; 0000-0002-4835-5770 ; 0000-0003-0389-4022 ; 0000-0001-5865-3467 ; 0000-0002-2540-7451 ; 0000-0001-7967-5454 ; 0000-0001-8292-8619 ; 0000-0002-8162-4944 ; 0000-0002-8279-8727 ; 0000-0002-8984-8248 ; 0000-0002-6578-3216 ; 0000-0003-1104-4271 ; 0000-0003-3739-0471 ; 0000-0002-4439-8554 ; 0000-0002-0667-7384</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28125075$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ghazani, Arezou A.</creatorcontrib><creatorcontrib>Oliver, Nelly M.</creatorcontrib><creatorcontrib>St. Pierre, Joseph P.</creatorcontrib><creatorcontrib>Garofalo, Andrea</creatorcontrib><creatorcontrib>Rainville, Irene R.</creatorcontrib><creatorcontrib>Hiller, Elaine</creatorcontrib><creatorcontrib>Treacy, Daniel J.</creatorcontrib><creatorcontrib>Rojas-Rudilla, Vanesa</creatorcontrib><creatorcontrib>Wood, Sam</creatorcontrib><creatorcontrib>Bair, Elizabeth</creatorcontrib><creatorcontrib>Parello, Michael</creatorcontrib><creatorcontrib>Huang, Franklin</creatorcontrib><creatorcontrib>Giannakis, Marios</creatorcontrib><creatorcontrib>Wilson, Frederick H.</creatorcontrib><creatorcontrib>Stover, Elizabeth H.</creatorcontrib><creatorcontrib>Corsello, Steven M.</creatorcontrib><creatorcontrib>Nguyen, Tom</creatorcontrib><creatorcontrib>Rana, Huma Q.</creatorcontrib><creatorcontrib>Church, Alanna J.</creatorcontrib><creatorcontrib>Lowenstein, Carol</creatorcontrib><creatorcontrib>Cibulskis, Carrie</creatorcontrib><creatorcontrib>Amin-Mansour, Ali</creatorcontrib><creatorcontrib>Heng, Jennifer</creatorcontrib><creatorcontrib>Brais, Lauren</creatorcontrib><creatorcontrib>Santos, Abigail</creatorcontrib><creatorcontrib>Bauer, Patrick</creatorcontrib><creatorcontrib>Waldron, Amanda</creatorcontrib><creatorcontrib>Lo, Peter</creatorcontrib><creatorcontrib>Gorman, Megan</creatorcontrib><creatorcontrib>Lydon, Christine A.</creatorcontrib><creatorcontrib>Welch, Marisa</creatorcontrib><creatorcontrib>McNamara, Philip</creatorcontrib><creatorcontrib>Gabriel, Stacey</creatorcontrib><creatorcontrib>Sholl, Lynette M.</creatorcontrib><creatorcontrib>Lindeman, Neal I.</creatorcontrib><creatorcontrib>Garber, Judy E.</creatorcontrib><creatorcontrib>Joffe, Steven</creatorcontrib><creatorcontrib>Van Allen, Eliezer M.</creatorcontrib><creatorcontrib>Gray, Stacy W.</creatorcontrib><creatorcontrib>Jänne, Pasi A.</creatorcontrib><creatorcontrib>Garraway, Levi A.</creatorcontrib><creatorcontrib>Wagle, Nikhil</creatorcontrib><title>Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose:
Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care.
Methods:
One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences.
Results:
At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach.
Conclusion:
The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.
Genet Med
advance online publication 26 January 2017</description><subject>631/208/1516</subject><subject>631/208/514</subject><subject>631/208/69</subject><subject>Adenocarcinoma - genetics</subject><subject>Adenocarcinoma of Lung</subject><subject>Adult</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Databases, Genetic</subject><subject>Exome - genetics</subject><subject>Genomics - methods</subject><subject>Germ-Line Mutation - genetics</subject><subject>High-Throughput Nucleotide Sequencing - methods</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Lung cancer</subject><subject>Lung Neoplasms - genetics</subject><subject>Mutation - genetics</subject><subject>original-research-article</subject><subject>Precision Medicine - methods</subject><subject>Prospective Studies</subject><subject>Sequence Analysis, DNA - 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clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study</title><author>Ghazani, Arezou A. ; Oliver, Nelly M. ; St. Pierre, Joseph P. ; Garofalo, Andrea ; Rainville, Irene R. ; Hiller, Elaine ; Treacy, Daniel J. ; Rojas-Rudilla, Vanesa ; Wood, Sam ; Bair, Elizabeth ; Parello, Michael ; Huang, Franklin ; Giannakis, Marios ; Wilson, Frederick H. ; Stover, Elizabeth H. ; Corsello, Steven M. ; Nguyen, Tom ; Rana, Huma Q. ; Church, Alanna J. ; Lowenstein, Carol ; Cibulskis, Carrie ; Amin-Mansour, Ali ; Heng, Jennifer ; Brais, Lauren ; Santos, Abigail ; Bauer, Patrick ; Waldron, Amanda ; Lo, Peter ; Gorman, Megan ; Lydon, Christine A. ; Welch, Marisa ; McNamara, Philip ; Gabriel, Stacey ; Sholl, Lynette M. ; Lindeman, Neal I. ; Garber, Judy E. ; Joffe, Steven ; Van Allen, Eliezer M. ; Gray, Stacy W. ; Jänne, Pasi A. ; Garraway, Levi A. ; Wagle, 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M.</creatorcontrib><creatorcontrib>Lindeman, Neal I.</creatorcontrib><creatorcontrib>Garber, Judy E.</creatorcontrib><creatorcontrib>Joffe, Steven</creatorcontrib><creatorcontrib>Van Allen, Eliezer M.</creatorcontrib><creatorcontrib>Gray, Stacy W.</creatorcontrib><creatorcontrib>Jänne, Pasi A.</creatorcontrib><creatorcontrib>Garraway, Levi A.</creatorcontrib><creatorcontrib>Wagle, Nikhil</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni 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Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ghazani, Arezou A.</au><au>Oliver, Nelly M.</au><au>St. Pierre, Joseph P.</au><au>Garofalo, Andrea</au><au>Rainville, Irene R.</au><au>Hiller, Elaine</au><au>Treacy, Daniel J.</au><au>Rojas-Rudilla, Vanesa</au><au>Wood, Sam</au><au>Bair, Elizabeth</au><au>Parello, Michael</au><au>Huang, Franklin</au><au>Giannakis, Marios</au><au>Wilson, Frederick H.</au><au>Stover, Elizabeth H.</au><au>Corsello, Steven M.</au><au>Nguyen, Tom</au><au>Rana, Huma Q.</au><au>Church, Alanna J.</au><au>Lowenstein, Carol</au><au>Cibulskis, Carrie</au><au>Amin-Mansour, Ali</au><au>Heng, Jennifer</au><au>Brais, Lauren</au><au>Santos, Abigail</au><au>Bauer, Patrick</au><au>Waldron, Amanda</au><au>Lo, Peter</au><au>Gorman, Megan</au><au>Lydon, Christine A.</au><au>Welch, Marisa</au><au>McNamara, Philip</au><au>Gabriel, Stacey</au><au>Sholl, Lynette M.</au><au>Lindeman, Neal I.</au><au>Garber, Judy E.</au><au>Joffe, Steven</au><au>Van Allen, Eliezer M.</au><au>Gray, Stacy W.</au><au>Jänne, Pasi A.</au><au>Garraway, Levi A.</au><au>Wagle, Nikhil</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2017-07-01</date><risdate>2017</risdate><volume>19</volume><issue>7</issue><spage>787</spage><epage>795</epage><pages>787-795</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose:
Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care.
Methods:
One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences.
Results:
At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach.
Conclusion:
The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.
Genet Med
advance online publication 26 January 2017</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>28125075</pmid><doi>10.1038/gim.2016.191</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-1962-9963</orcidid><orcidid>https://orcid.org/0000-0001-9279-6824</orcidid><orcidid>https://orcid.org/0000-0002-1598-6752</orcidid><orcidid>https://orcid.org/0000-0003-0548-1328</orcidid><orcidid>https://orcid.org/0000-0002-9532-9735</orcidid><orcidid>https://orcid.org/0000-0003-0593-8869</orcidid><orcidid>https://orcid.org/0000-0001-6948-0143</orcidid><orcidid>https://orcid.org/0000-0002-7821-4928</orcidid><orcidid>https://orcid.org/0000-0002-4835-5770</orcidid><orcidid>https://orcid.org/0000-0003-0389-4022</orcidid><orcidid>https://orcid.org/0000-0001-5865-3467</orcidid><orcidid>https://orcid.org/0000-0002-2540-7451</orcidid><orcidid>https://orcid.org/0000-0001-7967-5454</orcidid><orcidid>https://orcid.org/0000-0001-8292-8619</orcidid><orcidid>https://orcid.org/0000-0002-8162-4944</orcidid><orcidid>https://orcid.org/0000-0002-8279-8727</orcidid><orcidid>https://orcid.org/0000-0002-8984-8248</orcidid><orcidid>https://orcid.org/0000-0002-6578-3216</orcidid><orcidid>https://orcid.org/0000-0003-1104-4271</orcidid><orcidid>https://orcid.org/0000-0003-3739-0471</orcidid><orcidid>https://orcid.org/0000-0002-4439-8554</orcidid><orcidid>https://orcid.org/0000-0002-0667-7384</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1098-3600 |
| ispartof | Genetics in medicine, 2017-07, Vol.19 (7), p.787-795 |
| issn | 1098-3600 1530-0366 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | 631/208/1516 631/208/514 631/208/69 Adenocarcinoma - genetics Adenocarcinoma of Lung Adult Biomedical and Life Sciences Biomedicine Cancer Colorectal Neoplasms - genetics Databases, Genetic Exome - genetics Genomics - methods Germ-Line Mutation - genetics High-Throughput Nucleotide Sequencing - methods Human Genetics Humans Laboratory Medicine Lung cancer Lung Neoplasms - genetics Mutation - genetics original-research-article Precision Medicine - methods Prospective Studies Sequence Analysis, DNA - methods Whole Exome Sequencing - methods |
| title | Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-19T00%3A33%3A27IST&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=Assigning%20clinical%20meaning%20to%20somatic%20and%20germ-line%20whole-exome%20sequencing%20data%20in%20a%20prospective%20cancer%20precision%20medicine%20study&rft.jtitle=Genetics%20in%20medicine&rft.au=Ghazani,%20Arezou%20A.&rft.date=2017-07-01&rft.volume=19&rft.issue=7&rft.spage=787&rft.epage=795&rft.pages=787-795&rft.issn=1098-3600&rft.eissn=1530-0366&rft_id=info:doi/10.1038/gim.2016.191&rft_dat=%3Cproquest_cross%3E1918612026%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=1918612026&rft_id=info:pmid/28125075&rfr_iscdi=true |