Publications

Feb 2018
Points to consider for sharing variantlevel information from clinical genetic testing with ClinVar

Danielle R. Azzariti, Erin Rooney Riggs, Annie Niehaus, Laura Lyman Rodriguez, Erin M. Ramos, Brandi Kattman, Melissa J. Landrum, Christa L. Martin, and Heidi L. Rehm

Jan 2018
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V Tavtigian PhD, Marc S Greenblatt MD, PhD, Steven M Harrison PhD, Robert L Nussbaum MD, Snehit A Prabhu PhD, Kenneth M Boucher PhD & Leslie G Biesecker MD on behalf of the ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

Jan 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Melissa A Kelly MS, Colleen Caleshu MS, Ana Morales MS, Jillian Buchan PhD, Zena Wolf PhD, Steven M Harrison PhD, Stuart Cook MD, Mitchell W Dillon MS, John Garcia PhD, Eden Haverfield PhD, Jan D H Jongbloed PhD, Daniela Macaya PhD, Arjun Manrai PhD, Kate Orland MS, Gabriele Richard MD, Katherine Spoonamore MS, Matthew Thomas MS, Kate Thomson BSc, Lisa M Vincent PhD, Roddy Walsh PhD, Hugh Watkins MD PhD, Nicola Whiffin PhD, Jodie Ingles PhD, J Peter van Tintelen MD PhD, Christopher Semsarian MBBS PhD, James S Ware PhD MRCP, Ray Hershberger MD & Birgit Funke PhD for the ClinGen Cardiovascular Clinical Domain Working Group

Jun 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande, N. T., Riggs, E. R., Buchanan, A. H., Ceyhan-Birsoy, O., DiStefano, M., Dwight, S. S., ... & Wright, M. W. (2017). Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. The American Journal of Human Genetics.

Mar 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL.
Jan 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y. Patel , Neethu Shah, Andrew R. Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron Baker , Kevin Riehle, Hailin Chen, Sofia Milosavljevic , Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison, Danielle Azzariti, Bradford Powell, Larry Babb, Sharon E. Plon, Aleksandar Milosavljevic and on behalf of the ClinGen Resource
Nov 2016
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group.
Aug 2016
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

Heale, B. S. E., et al. “Integrating Genomic Resources with Electronic Health Records Using the HL7 Infobutton Standard.” Applied Clinical Informatics, vol. 7, no. 3, 31 Aug. 2016, pp. 817–831., doi:10.4338/aci-2016-04-ra-0058.

Apr 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
J.E. Hunter, S.A. Irving, L.G. Biesecker, A. Buchanan, C.L. Martin, L. Milko, K. Muessig, A. Niehaus, J. O’Daniel, M.A. Piper, E.M. Ramos, A. Slavotinek, N. Sobreira, S.D. Schully, A.F. Scott, M. Weaver, N. Strande, E.M. Webber, M.S. Williams, J.S. Berg, J.P. Evans, K. Goddard, “A standardized, evidence-based protocol to assess clinicalactionability of genetic disorders associated with genomic variation,” Genetics in Medicine, 28 April 2016.
Apr 2016
Using ClinVar as a Resource to Support Variant Interpretation
Harrison, S. M., Riggs, E. R., Maglott, D. R., Lee, J. M., Azzariti, D. R., Niehaus, A., ... & Rehm, H. L. (2016). Using ClinVar as a Resource to Support Variant Interpretation. Current Protocols in Human Genetics, 8-16.
Nov 2015
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup
Overby, C., Heale, B., Aronson, S., Cherry, J. M., Dwight, S., Milosavljevic, A., ... & Williams, M. S. (2015). Providing access to genomic variant knowledge in a healthcare setting: A vision for the ClinGen electronic health records workgroup. Clinical Pharmacology & Therapeutics.
Nov 2015
Privacy Risks from Genomic Data-Sharing Beacons
Shringarpure, S. S., & Bustamante, C. D. (2015). Privacy Risks from Genomic Data-Sharing Beacons. The American Journal of Human Genetics.
Oct 2015
Building the foundation for genomics in precision medicine
Aronson, S. J., & Rehm, H. L. (2015). Building the foundation for genomics in precision medicine. Nature, 526(7573), 336-342.
Aug 2015
GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge
Kirkpatrick, Brianne E., et al. "GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge." Human mutation 36.10 (2015): 974-978.
Jun 2015
Copy Number Variants, Aneuploidies, and Human Disease
Martin, C. L., Kirkpatrick, B. E., & Ledbetter, D. H. (2015). Copy Number Variants, Aneuploidies, and Human Disease. Clinics in Perinatology.
May 2015
ClinGen — The Clinical Genome Resource
Rehm H.L, et al. 2015 Mar 27. New England Journal of Medicine.
May 2015
Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence
Martin, C. L., & Warburton, D. (2013). Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence. Annual Review of Genomics and Human Genetics, (0).
May 2015
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.
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., ... & ACMG Laboratory Quality Assurance Committee. (2015). 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. Genetics in Medicine.
Jul 2014
Genomic variation: lessons learned from whole-genome CNV analysis
Riggs ER, Ledbetter DH, Martin CL. Curr Genet Med Rep. 2014 Jul 18;2:146-150. 
Mar 2014
Characterizing genetic variants for clinical action
Ramos et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13.
Feb 2014
Chromosomal microarray impacts clinical management
Riggs E.R., Wain K.E., Riethmaier D., Packard B.S., Faucett A.W., Hoppman N., Thorland E.C., Patel V.C., Miller D.T. Clin Genet. 2014 Feb;85(2):147-53.
Nov 2013
A systematic approach to assessing the clinical significance of genetic variants
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. Clin Genet. 2013 Nov; 84(5):453-63.