{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T03:56:46Z","timestamp":1648785406605},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T00:00:00Z","timestamp":1529971200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Internist"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1007\/s00108-018-0457-7","type":"journal-article","created":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T03:26:23Z","timestamp":1529983583000},"page":"756-765","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rationaler Einsatz genetischer Tests in der Inneren Medizin"],"prefix":"10.1007","volume":"59","author":[{"given":"M.","family":"Elbracht","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,6,26]]},"reference":[{"key":"457_CR1","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad MJ, Ng SB, Bigham AW et\u00a0al (2011) Exome sequencing as a\u00a0tool for Mendelian disease gene discovery. Nat Rev Genet 12:745\u2013755","journal-title":"Nat Rev Genet"},{"issue":"6","key":"457_CR2","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/s41571-018-0002-6","volume":"15","author":"MF Berger","year":"2018","unstructured":"Berger MF, Mardis ER (2018) The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol 15(6):353. \n                    https:\/\/doi.org\/10.1038\/s41571-018-0002-6","journal-title":"Nat Rev Clin Oncol"},{"key":"457_CR3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23427","author":"S Chakravorty","year":"2018","unstructured":"Chakravorty S, Hegde MR (2018) Inferring the effect of genomic variation in the new era of genomics. Hum Mutat. \n                    https:\/\/doi.org\/10.1002\/humu.23427","journal-title":"Hum Mutat"},{"key":"457_CR4","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.ajhg.2015.06.009","volume":"97","author":"JX Chong","year":"2015","unstructured":"Chong JX, Buckingham KJ, Jhangiani SN et\u00a0al (2015) The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet 97:199\u2013215","journal-title":"Am J Hum Genet"},{"key":"457_CR5","unstructured":"Deutsche Gesellschaft f\u00fcr Humangenetik (2011) Stellungnahme. \n                    https:\/\/www.gfhev.de\/de\/leitlinien\/LL_und_Stellungnahmen\/2011_S2-LL-Humangenetik.pdf"},{"key":"457_CR6","unstructured":"Deutsche Gesellschaft f\u00fcr Humangenetik (2013) Stellungnahme. \n                    http:\/\/www.gfhev.de\/de\/leitlinien\/LL_und_Stellungnahmen\/2013_05_28_Stellungnahme_zu_genetischen_Zufallsbefunden.pdf"},{"key":"457_CR7","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/nrg.2016.49","volume":"17","author":"S Goodwin","year":"2016","unstructured":"Goodwin S, McPherson JD, McCombie WR (2016) Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet 17:333\u2013351","journal-title":"Nat Rev Genet"},{"key":"457_CR8","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1007\/s11825-016-0103-5","volume":"28","author":"AP Hehr","year":"2016","unstructured":"Hehr AP, Paulmann B, Eichhammer L, Gassner C, Seifert B, Hehr U (2016) Pr\u00e4implantationsdiagnostik \u2013 methodische Aspekte. medgen 28:332\u2013341","journal-title":"medgen"},{"key":"457_CR9","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.gde.2017.01.001","volume":"42","author":"DC Hoskinson","year":"2017","unstructured":"Hoskinson DC, Dubuc AM, Mason-Suares H (2017) The current state of clinical interpretation of sequence variants. Curr Opin Genet Dev 42:33\u201339","journal-title":"Curr Opin Genet Dev"},{"key":"457_CR10","doi-asserted-by":"publisher","first-page":"2229","DOI":"10.1056\/NEJMsb1503104","volume":"372","author":"JL Jameson","year":"2015","unstructured":"Jameson JL, Longo DL (2015) Precision medicine\u2014personalized, problematic, and promising. N\u00a0Engl J Med 372:2229\u20132234","journal-title":"N Engl J Med"},{"key":"457_CR11","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/gim.2016.190","volume":"19","author":"SS Kalia","year":"2017","unstructured":"Kalia SS, Adelman K, Bale SJ et\u00a0al (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a\u00a0policy statement of the American College of Medical Genetics and Genomics. Genet Med 19:249\u2013255","journal-title":"Genet Med"},{"key":"457_CR12","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/ejhg.2015.226","volume":"24","author":"G Matthijs","year":"2016","unstructured":"Matthijs G, Souche E, Alders M et al (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2\u20135","journal-title":"Eur J Hum Genet"},{"key":"457_CR13","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/nrg2626","volume":"11","author":"ML Metzker","year":"2010","unstructured":"Metzker ML (2010) Sequencing technologies\u2014the next generation. Nat Rev Genet 11:31\u201346","journal-title":"Nat Rev Genet"},{"key":"457_CR14","doi-asserted-by":"publisher","DOI":"10.1055\/b-002-96297","volume-title":"Medizinische Genetik f\u00fcr die Praxis: Diagnostik, Beratung, Fallbeispiele","author":"U Moog","year":"2014","unstructured":"Moog U, Aretz S et\u00a0al (2014) Medizinische Genetik f\u00fcr die Praxis: Diagnostik, Beratung, Fallbeispiele. Thieme, Stuttgart"},{"key":"457_CR15","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1002\/humu.22987","volume":"37","author":"A Niroula","year":"2016","unstructured":"Niroula A, Vihinen M (2016) Variation Interpretation Predictors: Principles, Types, Performance, and Choice. Hum Mutat 37:579\u2013597","journal-title":"Hum Mutat"},{"key":"457_CR16","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1038\/ng.2503","volume":"45","author":"C Palles","year":"2013","unstructured":"Palles C, Cazier JB, Howarth KM et\u00a0al (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45:136\u2013144","journal-title":"Nat Genet"},{"key":"457_CR17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et\u00a0al (2015) Standards and guidelines for the interpretation of sequence variants: a\u00a0joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"457_CR18","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1146\/annurev-genom-091416-035305","volume":"18","author":"PD Shah","year":"2017","unstructured":"Shah PD, Nathanson KL (2017) Application of panel-based tests for inherited risk of cancer. Annu Rev Genomics Hum Genet 18:201\u2013227","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"457_CR19","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nature24286","volume":"550","author":"J Shendure","year":"2017","unstructured":"Shendure J, Balasubramanian S, Church GM et\u00a0al (2017) DNA sequencing at 40: past, present and future. Nature 550:345\u2013353","journal-title":"Nature"},{"key":"457_CR20","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2018.02.005","author":"CM Stewart","year":"2018","unstructured":"Stewart CM, Tsui DWY (2018) Circulating cell-free DNA for non-invasive cancer management. Cancer Genet. \n                    https:\/\/doi.org\/10.1016\/j.cancergen.2018.02.005","journal-title":"Cancer Genet"},{"key":"457_CR21","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1016\/j.cell.2017.08.007","volume":"170","author":"A Torkamani","year":"2017","unstructured":"Torkamani A, Andersen KG, Steinhubl SR et al (2017) High-definition medicine. Cell 170:828\u2013843","journal-title":"Cell"},{"key":"457_CR22","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1146\/annurev-med-091014-115715","volume":"67","author":"FC Wong","year":"2016","unstructured":"Wong FC, Lo YM (2016) Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu Rev Med 67:419\u2013432","journal-title":"Annu Rev Med"}],"container-title":["Der Internist"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00108-018-0457-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-018-0457-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-018-0457-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T19:07:23Z","timestamp":1561489643000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00108-018-0457-7"}},"subtitle":["M\u00f6glichkeiten und Limitationen der Next-generation-sequencing-Diagnostik"],"short-title":[],"issued":{"date-parts":[[2018,6,26]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["457"],"URL":"https:\/\/doi.org\/10.1007\/s00108-018-0457-7","relation":{},"ISSN":["0020-9554","1432-1289"],"issn-type":[{"value":"0020-9554","type":"print"},{"value":"1432-1289","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,26]]},"assertion":[{"value":"26 June 2018","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"M.\u00a0Elbracht, R.\u00a0Meyer, T.\u00a0Eggermann und I.\u00a0Kurth geben an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"Dieser Beitrag beinhaltet keine von den Autoren durchgef\u00fchrten Studien an Menschen oder Tieren.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}]}}