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Selected Recent Publications

  1. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 Jan; 51(1):3-4. PMID: 30478437.
  2. Kumar Mohanty A, Vuzman D, Francioli L, Cassa C, Toth-Petroczy A, Sunyaev S. novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data. Bioinformatics. 2018 Aug 30. PMID: 30169785.
  3. Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI. Predictable and precise template-free CRISPR editing of pathogenic variants. Nature 2018.
  4. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev, SR. Response to comment on “Estimating the selective effects of heterozygous protein-truncating variants from human exome data”, Cassa et al. Nat Genet. 2018
  5. Weghorn D, Balick DJ, Cassa CA, Kosmicki J, Daly MJ, Beier DR, Sunyaev SR. Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans. bioRxiv Pre-print:
  6. Kousi M, Soylemez O, Ozanturk A, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Rosenfeld JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. bioRxiv Pre-print:
  7. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9.
  8. Cassa CA, Jordan DM, Adzhubei I, Sunyaev SR. A literature review at genome scale: improving clinical variant assessment. Genet Med. 2018 Feb 1. doi: 10.1038/gim.2017.230. PMID: 29388949 PDF:
  9. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev, SR. Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data. Nat Genet. 2017 May;49(5):806-810. doi: 10.1038/ng.3831. PMID: 28369035 PMC:
  10. Cassa CA, Akle S, Jordan DM, Rosenfeld JA. When “N of 2” is not enough: Integrating statistical and functional data in gene discovery. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099. PMID: 28487880
  11. Akle S, Chun S, Jordan DM, Cassa CA. Mitigating false-positive associations in rare disease gene discovery. Hum Mutat. 2015 Oct;36(10):998-1003. doi: 10.1002/humu.22847. PMID: 26378430
  12. Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine, Vuzman D. An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. Rheumatology (Oxford). 2015 Oct 22. pii: kev367. PMID: 26493744
  13. Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep;3(5):413-23. doi: 10.1002/mgg3.152. Epub 2015 May 10. PMID: 26436107
  14. Balick DJ, Do R, Cassa CA, Reich D, Sunyaev SR. Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck. PLoS Genet. 2015 Aug 28;11(8):e1005436. doi: 10.1371/journal.pgen.1005436. eCollection 2015 Aug. PMID: 26317225
  15. Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J; Task Force for Neonatal Genomics, Davis EE, Sunyaev SR, Katsanis N. Identification of cis-suppression of human disease mutations by comparative genomics. Nature. 2015 Aug 13;524(7564):225-9. doi: 10.1038/nature14497. Epub 2015 Jun 29. PMID: 26123021
  16. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, … Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
    Genome Biol. 15(3):R53 (2014) PubMed PMID:24667040.
  17. Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat 34(9):1216-20 (2013). PubMed [[|PMID:23818451
  18. Cassa, CA, Chunara R, Mandl K, Brownstein JS. Twitter as a sentinel in emergency situations: lessons from the Boston marathon explosions. PLoS Curr. 2013; 5. PMID: 23852273; PMCID: PMC3706072.1.
  19. Cassa, CA, Miller RA, Mandl KD. A novel, privacy-preserving cryptographic approach for sharing sequencing data. J Am Med Inform Assoc. 2013 Jan 1; 20(1):69-76. PMID: 23125421; PMCID: PMC3555340.
  20. Cassa, CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 2012 Mar; 22(3):421-8. PMID: 22147367; PMCID: PMC3290777.
  21. Tong MY, Cassa, CA, Kohane IS. Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. Bioinformatics. 2011 Mar 15; 27(6):891-3. PMID: 21258063; PMCID: PMC3051330.
  22. Malin, B, Cassa, C, Kantarcioglu M . Privacy-Aware Knowledge Discovery: Novel Applications and New Techniques, Chapman Hall / CRC Press. A Survey of Challenges and Solutions for Privacy in Clinical Genomics Data Mining. 2010.
  23. Cassa, CA, Mandl KD. AMIA Annu Symp Proc. 2009. Risk of Re-Identification: Privacy Implications for Rare Mutation. 2009.
  24. Stoto, M. A., Dempsey, J. X., Baer, A., Cassa, C, Gibson, P. J., & Buehler, J. W. . Advances in Disease Surveillance. Expert Meeting on Privacy, Confidentiality, and Other Legal and Ethical Issues in Syndromic Surveillance. 2009; 7(2).
  25. Wieland SC, Cassa, CA, Mandl KD, Berger B. Revealing the spatial distribution of a disease while preserving privacy. Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46):17608-13. PMID: 19015533; PMCID: PMC2584758.
  26. Cassa, CA, Kenfield S, Daniel J, Mandl KD. The Massachusetts Health and Homeland Alert Network: a scalable and secure public health knowledge management and notification system. AMIA Annu Symp Proc. 2008; 893. PMID: 18999074.
  27. Cassa, CA, Wieland SC, Mandl KD. Re-identification of home addresses from spatial locations anonymized by Gaussian skew. Int J Health Geogr. 2008; 7:45. PMID: 18700031; PMCID: PMC2526988.
  28. Cassa, CA, Schmidt B, Kohane IS, Mandl KD. My sister's keeper?: genomic research and the identifiability of siblings. BMC Med Genomics. 2008; 1:32. PMID: 18655711; PMCID: PMC2503988.
  29. Cassa, CA. Privacy and identifiability in clinical research, personalized medicine, and public health surveillance. 2008.
  30. Cassa, CA, Mandl KD. Multi-factor authentication using contents from disparate EHRs. AMIA Annu Symp Proc. 2007; 891. PMID: 18693992.
  31. Brownstein JS, Cassa, CA, Kohane IS, Mandl KD. An unsupervised classification method for inferring original case locations from low-resolution disease maps. Int J Health Geogr. 2006; 5:56. PMID: 17156451; PMCID: PMC1702538.
  32. Brownstein JS, Cassa, CA, Mandl KD. No place to hide–reverse identification of patients from published maps. N Engl J Med. 2006 Oct 19; 355(16):1741-2. PMID: 17050904.
  33. Grannis S, Egg J, Cassa, C, Olson K, Mandl K, Overhage J . Proc Symp 2006 Syndromic Surveillance Conf, Baltimore, MD. Evaluating the Performance of a Spatial Scan Statistic Using Simulated Outbreak Characteristics. 2006.
  34. Cassa, CA, Grannis SJ, Overhage JM, Mandl KD. A context-sensitive approach to anonymizing spatial surveillance data: impact on outbreak detection. J Am Med Inform Assoc. 2006 Mar-Apr; 13(2):160-5. PMID: 16357353; PMCID: PMC1447544.
  35. Cassa, CA, Iancu K, Olson KL, Mandl KD. A software tool for creating simulated outbreaks to benchmark surveillance systems. BMC Med Inform Decis Mak. 2005; 5:22. PMID: 16018815; PMCID: PMC1182374.
  36. Brownstein JS, Cassa, CA, Kohane IS, Mandl KD. Reverse geocoding: concerns about patient confidentiality in the display of geospatial health data. AMIA Annu Symp Proc. 2005; 905. PMID: 16779192; PMCID: PMC1560748.
  37. Grannis S, Mandl K, Olson K, Cassa, CA, Overhage JM . International Society of Disease Surveillance Annu Symp Proc. Boston, MA. Geographic Coordinate Transformation Methods to Reduce Privacy Risks Associated with Surveillance. 2004.
  38. Mandl KD, Reis B, Cassa, C. Measuring outbreak-detection performance by using controlled feature set simulations. MMWR Morb Mortal Wkly Rep. 2004 Sep 24; 53 Suppl:130-6. PMID: 15714642.
  39. Cassa, CA. Spatial outbreak detection analysis tool : a system to create sets of semi-synthetic geo-spatial clusters. 2004.