Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.

作者: Heidi L Rehm

DOI: 10.1038/GIM.2017.179

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参考文章(8)
Sherri Bale, Martijn Devisscher, Wim Van Criekinge, Heidi L Rehm, Frederik Decouttere, Robert Nussbaum, Johan T Den Dunnen, Patrick Willems, MutaDATABASE: a centralized and standardized DNA variation database. Nature Biotechnology. ,vol. 29, pp. 117- 118 ,(2011) , 10.1038/NBT.1772
Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Greg M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carrie Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm, Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium American Journal of Human Genetics. ,vol. 98, pp. 1067- 1076 ,(2016) , 10.1016/J.AJHG.2016.03.024
Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J.H. Bean, Sherri Bale, Madhuri Hegde, Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine American Journal of Human Genetics. ,vol. 99, pp. 1140- 1149 ,(2016) , 10.1016/J.AJHG.2016.09.015
Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Sherri Bale, Elizabeth C. Chao, Soma Das, Lisa Vincent, Heidi L. Rehm, Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar Genetics in Medicine. ,vol. 19, pp. 1096- 1104 ,(2017) , 10.1038/GIM.2017.14
Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper, Sources of discordance among germ-line variant classifications in ClinVar Genetics in Medicine. ,vol. 19, pp. 1118- 1126 ,(2017) , 10.1038/GIM.2017.60
Heidi L Rehm, A new era in the interpretation of human genomic variation. Genetics in Medicine. ,vol. 19, pp. 1092- 1095 ,(2017) , 10.1038/GIM.2017.90
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye, Elizabeth McCready, Jillian S Parboosingh, Ryan E Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S Charames, Ronald Agatep, Elizabeth L Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R Akbari, Jordan Lerner-Ellis, None, Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Genetics in Medicine. ,vol. 20, pp. 294- 302 ,(2018) , 10.1038/GIM.2017.80
Peter Bauer, Ellen Karges, Gabriela Oprea, Arndt Rolfs, Unmet needs in human genomic variant interpretation. Genetics in Medicine. ,vol. 20, pp. 376- 377 ,(2018) , 10.1038/GIM.2017.187