Matthew Lebo, PhD
Matthew Lebo, PhD joined Partners Personalized Medicine as an Assistant Laboratory Director for the Laboratory for Molecular Medicine in 2011 after completing his ABMG molecular genetics fellowship training at the Harvard Medical School Genetics Training Program. In the fall of 2013 Dr. Lebo became the head of Bioinformatics at Partners Personalized Medicine and Associate Laboratory Director for the Laboratory for Molecular Medicine, and in 2018 become the Director of the Laboratory for Molecular Medicine.
Biography
Dr. Lebo is a board-certified Clinical Molecular Geneticist and bioinformatician actively involved in molecular diagnostics, translational research, and training/education of fellows. He serves as both the Director of Bioinformatics within a personalized medicine center and as Director of the Laboratory for Molecular Medicine (LMM), a CLIA-certified molecular diagnostics laboratory. Combined with his training in computational biology, Dr. Lebo’s efforts focus on driving forward the routine use of integrated genomic information in translational and clinical applications. He directs all bioinformatics activities for Partners Personalized Medicine, including bioinformatics activities in clinical molecular genetic testing, translational research projects, software development, and the Partners Biobank. A main active focus of his work is to lead the LMM’s clinical genome/exome sequencing pipelines, with a major focus in genomic based screening of healthy individuals. Under his leadership our bioinformatics has managed a clinical genomic interpretation pipeline for over 6 years, continuously updating and validating the workflow to provide accurate and efficient workflows for the clinical interpretation team. This includes identifying variants, annotating and filtering them to likely candidates, and assessing pathogenicity. He also helps manage the clinical variant assessment process, leading to one of the first publications detailing standardized methodology for variant interpretation, and helped develop a novel algorithm for copy-number variant calls from targeted next-generation sequencing data. Additionally, Dr. Lebo works on multiple efforts focused on clinical sequencing and return of results to patients using exome and genome sequencing focusing on healthy and sick adults (MedSeq), healthy and sick newborns (BabySeq), active armed forces members (MilSeq), and large biobank cohorts (eMERGE, Partners Biobank, and Geisinger MyCode).
Education
- 2002, BA, Mathematics and Biology, Boston University, Boston, MA
- 2008, PhD, Computational Biology and Bioinformatics, University of Southern California, Los Angeles, CA
- 2011, FACMG, Molecular Genetics, Harvard Medical School Genetics Training Program / American Board of Medical Genetics
Publications
- Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M. Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. J Pers Med. 2016 Jan 20;6(1). PMID: 26805890.
- Tsai EA**, Shakbatyan R, Evans J, Rossetti P, Graham C, Sharma H, Lin CF**, Lebo MS. Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. J Pers Med. 2016 Feb 27;6(1). PMID: 26927186.
- Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS. VisCap: Inference and visualization of germline copy number variants from targeted clinical sequencing data. Genet Med. 2015 Dec 17. PMID: 26681316.
- Hakami F, Dillon MW, Lebo M, Mason-Suares H. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 2016 Feb 26. PMID: 26918529.
- Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, and Funke BH. Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies. Mol Genet Genomic Med. 2016 Mar 4(2):143-151. PMID: 27066507.
- Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Hynes E, Hegde M, Santani A, Lebo M, Funke B. Navigating highly homologous genes in a molecular diagnostic setting - a resource for clinical next generation sequencing. Genet Med. 2016 May 26. PMID: 27228465.
- Amendola LM, Jarvik GP, Leo M, McLaughlin HM, Akkari Y, Amaral MD, Berg J, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium. Am J Hum Genet. 2016 Jun 2;98(6):1067-76. PMID: 27181684.
- Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN. Using large sequencing datasets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med. 2016 Sep 22. PMID: 27657688.
- Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016 Dec 23;354(6319). PMID: 28008009.
- Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PK, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL, for the BabySeq Project. A Curated Gene List for Reporting Results in Newborn Genomic Sequencing. Genet Med. 2017 Jan 12. PMID: 28079900.
- Mason-Suares H, Toledo D, Gekas J, Lafferty KA, Meeks N, Pacheco MC, Sharpe D, Mullen TE, Lebo MS. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. Eur J Hum Genet. 2017 Jan 18. PMID: 28098151.
- Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. Genet Med. 2017 Nov;19(11):1245-1252. PMID: 28471438
- Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 Jun 27. PMID: 28654958
- Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). Genet Med. 2017 Jul 20. PMID: 28726806
- Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2017. Oct 26. PMID: 29261187
- Sanghvi RV, Buhay CJ, Powell BC, Tsai E**, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N, on behalf of the NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers. Genet Med. 2017. Nov 16. PMID: 29144510
- Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O’Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY, for the MedSeq Project. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017 2017 Oct;10(5). pii: e001768. PMID: 29030401
Awards and honors
- 2001: NIH-SREU Research Fellowship – Boston University
- 2002-2004: Viterbi Fellowship – University of Southern California
- 2002-2007: Dean’s Fellowship – University of Southern California
- 2007: Final Year Dissertation Fellowship – University of Southern California
- 2009: Partners in Excellence Award – Partners HealthCare
- 2011 Partners in Excellence Award Partners HealthCare
- 2012 The CLARITY Challenge Children's Hospital Boston
- 2012 Partners in Excellence Award Partners HealthCare
- 2013 Young Investigator Award GenomeWeb
- 2013 Editor’s Choice Award for GeneInsight BioIT World
- 2014 Partners in Excellence Award Partners HealthCare
Contact
Email: mlebo@bwh.harvard.edu