TY - JOUR AU - Stadler, Z. K. AU - Schrader, K. A. AU - Vijai, J. AU - Robson, M. E. AU - Offit, K. PY - 2014 DA - 2014// TI - Cancer genomics and inherited risk JO - J Clin Oncol VL - 32 UR - https://doi.org/10.1200/JCO.2013.49.7271 DO - 10.1200/JCO.2013.49.7271 ID - Stadler2014 ER - TY - JOUR AU - Sokolenko, A. P. AU - Suspitsin, E. N. AU - Kuligina, E. S. AU - Bizin, I. V. AU - Frishman, D. AU - Imyanitov, E. N. PY - 2015 DA - 2015// TI - Identification of novel hereditary cancer genes by whole exome sequencing JO - Cancer Lett VL - 369 UR - https://doi.org/10.1016/j.canlet.2015.09.014 DO - 10.1016/j.canlet.2015.09.014 ID - Sokolenko2015 ER - TY - JOUR AU - Rehm, H. L. AU - Bale, S. J. AU - Bayrak-Toydemir, P. AU - Berg, J. S. AU - Brown, K. K. AU - Deignan, J. L. PY - 2013 DA - 2013// TI - ACMG clinical laboratory standards for next-generation sequencing JO - Genet Med VL - 15 UR - https://doi.org/10.1038/gim.2013.92 DO - 10.1038/gim.2013.92 ID - Rehm2013 ER - TY - JOUR AU - Auton, A. AU - Brooks, L. D. AU - Durbin, R. M. AU - Garrison, E. P. AU - Kang, H. M. PY - 2015 DA - 2015// TI - A global reference for human genetic variation JO - Nature VL - 526 UR - https://doi.org/10.1038/nature15393 DO - 10.1038/nature15393 ID - Auton2015 ER - TY - JOUR AU - Sudmant, P. H. AU - Rausch, T. AU - Gardner, E. J. AU - Handsaker, R. E. AU - Abyzov, A. AU - Huddleston, J. PY - 2015 DA - 2015// TI - An integrated map of structural variation in 2,504 human genomes JO - Nature VL - 526 UR - https://doi.org/10.1038/nature15394 DO - 10.1038/nature15394 ID - Sudmant2015 ER - TY - JOUR AU - Daly, M. B. AU - Pilarski, R. AU - Berry, M. AU - Buys, S. S. AU - Farmer, M. AU - Friedman, S. PY - 2017 DA - 2017// TI - NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017 JO - J Natl Compr Cancer Netw VL - 15 UR - https://doi.org/10.6004/jnccn.2017.0003 DO - 10.6004/jnccn.2017.0003 ID - Daly2017 ER - TY - JOUR AU - Gupta, S. AU - Provenzale, D. AU - Regenbogen, S. E. AU - Hampel, H. AU - Slavin, T. P. AU - Hall, M. J. PY - 2017 DA - 2017// TI - NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 3.2017 JO - J Natl Compr Cancer Netw VL - 15 UR - https://doi.org/10.6004/jnccn.2017.0176 DO - 10.6004/jnccn.2017.0176 ID - Gupta2017 ER - TY - JOUR AU - Robson, M. E. AU - Bradbury, A. R. AU - Arun, B. AU - Domchek, S. M. AU - Ford, J. M. AU - Hampel, H. L. PY - 2015 DA - 2015// TI - American Society of Clinical Oncology policy statement update: genetic and genomic testing for Cancer susceptibility JO - J Clin Oncol VL - 33 UR - https://doi.org/10.1200/JCO.2015.63.0996 DO - 10.1200/JCO.2015.63.0996 ID - Robson2015 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hakonarson, H. PY - 2010 DA - 2010// TI - ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data JO - Nucleic Acids Res VL - 38 UR - https://doi.org/10.1093/nar/gkq603 DO - 10.1093/nar/gkq603 ID - Wang2010 ER - TY - JOUR AU - Köster, J. AU - Rahmann, S. PY - 2012 DA - 2012// TI - Snakemake--a scalable bioinformatics workflow engine JO - Bioinformatics VL - 28 UR - https://doi.org/10.1093/bioinformatics/bts480 DO - 10.1093/bioinformatics/bts480 ID - Köster2012 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - BOOK AU - Ellard, S. AU - Baple, E. L. AU - Owens, M. AU - Eccles, D. M. AU - Abbs, S. AU - Newman, W. G. PY - 2017 DA - 2017// TI - ACGS Best Practice Guidelines for Variant Classification ID - Ellard2017 ER - TY - JOUR AU - Zook, J. M. AU - Chapman, B. AU - Wang, J. AU - Mittelman, D. AU - Hofmann, O. AU - Hide, W. PY - 2014 DA - 2014// TI - Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls JO - Nat Biotechnol VL - 32 UR - https://doi.org/10.1038/nbt.2835 DO - 10.1038/nbt.2835 ID - Zook2014 ER - TY - BOOK AU - Fox, J. PY - 2002 DA - 2002// TI - Bootstrapping regression models appendix to an R and S-PLUS companion to applied regression ID - Fox2002 ER - TY - JOUR AU - Eberle, M. A. AU - Fritzilas, E. AU - Krusche, P. AU - Källberg, M. AU - Moore, B. L. AU - Bekritsky, M. A. PY - 2017 DA - 2017// TI - A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree JO - Genome Res VL - 27 UR - https://doi.org/10.1101/gr.210500.116 DO - 10.1101/gr.210500.116 ID - Eberle2017 ER - TY - JOUR AU - Castéra, L. AU - Krieger, S. AU - Rousselin, A. AU - Legros, A. AU - Baumann, J. -. J. AU - Bruet, O. PY - 2014 DA - 2014// TI - Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes JO - Eur J Hum Genet VL - 22 UR - https://doi.org/10.1038/ejhg.2014.16 DO - 10.1038/ejhg.2014.16 ID - Castéra2014 ER - TY - JOUR AU - Cragun, D. AU - Radford, C. AU - Dolinsky, J. S. AU - Caldwell, M. AU - Chao, E. AU - Pal, T. PY - 2014 DA - 2014// TI - Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory JO - Clin Genet VL - 86 UR - https://doi.org/10.1111/cge.12359 DO - 10.1111/cge.12359 ID - Cragun2014 ER - TY - JOUR AU - Kurian, A. W. AU - Hare, E. E. AU - Mills, M. A. AU - Kingham, K. E. AU - McPherson, L. AU - Whittemore, A. S. PY - 2014 DA - 2014// TI - Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment JO - J Clin Oncol VL - 32 UR - https://doi.org/10.1200/JCO.2013.53.6607 DO - 10.1200/JCO.2013.53.6607 ID - Kurian2014 ER - TY - JOUR AU - LaDuca, H. AU - Stuenkel, A. J. AU - Dolinsky, J. S. AU - Keiles, S. AU - Tandy, S. AU - Pesaran, T. PY - 2014 DA - 2014// TI - Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients JO - Genet Med VL - 16 UR - https://doi.org/10.1038/gim.2014.40 DO - 10.1038/gim.2014.40 ID - LaDuca2014 ER - TY - JOUR AU - Lincoln, S. E. AU - Kobayashi, Y. AU - Anderson, M. J. AU - Yang, S. AU - Desmond, A. J. AU - Mills, M. A. PY - 2015 DA - 2015// TI - A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian Cancer genes in more than 1000 patients JO - J Mol Diagn VL - 17 UR - https://doi.org/10.1016/j.jmoldx.2015.04.009 DO - 10.1016/j.jmoldx.2015.04.009 ID - Lincoln2015 ER - TY - JOUR AU - Minion, L. E. AU - Dolinsky, J. S. AU - Chase, D. M. AU - Dunlop, C. L. AU - Chao, E. C. AU - Monk, B. J. PY - 2015 DA - 2015// TI - Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2 JO - Gynecol Oncol VL - 137 UR - https://doi.org/10.1016/j.ygyno.2015.01.537 DO - 10.1016/j.ygyno.2015.01.537 ID - Minion2015 ER - TY - STD TI - Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, et al. Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. Peer J. 2017;5 [cited 2018 Aug 31]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326550/. UR - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326550/ ID - ref22 ER - TY - JOUR AU - Woodward, A. M. AU - Davis, T. A. AU - Silva, A. G. S. AU - Kirk, J. A. AU - Leary, J. A. PY - 2005 DA - 2005// TI - Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families JO - J Med Genet VL - 42 UR - https://doi.org/10.1136/jmg.2004.027961 DO - 10.1136/jmg.2004.027961 ID - Woodward2005 ER - TY - JOUR AU - Concolino, P. AU - Capoluongo, E. PY - 2019 DA - 2019// TI - Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods JO - Expert Rev Mol Diagn VL - 19 UR - https://doi.org/10.1080/14737159.2019.1657011 DO - 10.1080/14737159.2019.1657011 ID - Concolino2019 ER -