Isaac S Kohane

Isaac S Kohane

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Isaac S Kohane

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Pre-existing autoimmune disease and the risk of immune-related adverse events among patients receiving checkpoint inhibitors for cancer.

Cancer Immunol Immunother 2019 Jun 15;68(6):917-926. Epub 2019 Mar 15.

Division of Population Sciences, Dana-Farber Cancer Institute, 450 Brookline Ave., Boston, MA, 02215, USA.

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http://link.springer.com/10.1007/s00262-019-02321-z
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http://dx.doi.org/10.1007/s00262-019-02321-zDOI Listing
June 2019

Beyond multidrug resistance: Leveraging rare variants with machine and statistical learning models in Mycobacterium tuberculosis resistance prediction.

EBioMedicine 2019 May 29;43:356-369. Epub 2019 Apr 29.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, United States of America; Division of Pulmonary & Critical Care, Massachusetts General Hospital, Boston, MA, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.04.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557804PMC
May 2019

Batch correction evaluation framework using a-priori gene-gene associations: applied to the GTEx dataset.

BMC Bioinformatics 2019 May 28;20(1):268. Epub 2019 May 28.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1186/s12859-019-2855-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537327PMC
May 2019

Framing the challenges of artificial intelligence in medicine.

BMJ Qual Saf 2019 Mar 5;28(3):238-241. Epub 2018 Oct 5.

Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA

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http://qualitysafety.bmj.com/lookup/doi/10.1136/bmjqs-2018-0
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http://dx.doi.org/10.1136/bmjqs-2018-008551DOI Listing
March 2019

Adversarial attacks on medical machine learning.

Science 2019 03;363(6433):1287-1289

Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.aaw4399DOI Listing
March 2019

Learning Contextual Hierarchical Structure of Medical Concepts with Poincairé Embeddings to Clarify Phenotypes.

Pac Symp Biocomput 2019 ;24:8-17

Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA dbmi.hms.harvard.edu.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417814PMC
January 2019

A Cloud-Based Metabolite and Chemical Prioritization System for the Biology/Disease-Driven Human Proteome Project.

J Proteome Res 2018 12 21;17(12):4345-4357. Epub 2018 Aug 21.

Department of Biomedical Informatics , Harvard Medical School , Boston , Massachusetts 02115 , United States.

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http://dx.doi.org/10.1021/acs.jproteome.8b00378DOI Listing
December 2018

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex.

Neurology 2018 Nov 17;91(21):974-976. Epub 2018 Oct 17.

From Harvard Medical School (K.-H.Y., O.M., N.P., I.S.K.), Boston; Harvard University (K.-H.Y., S.C.K.), Cambridge; Brigham and Women's Hospital (D.R.L.), Boston, MA; Aetna Inc. (K.F.), Hartford, CT; and Boston Children's Hospital (M.S., I.S.K.), MA.

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http://dx.doi.org/10.1212/WNL.0000000000006546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260203PMC
November 2018

PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.

J Am Med Inform Assoc 2018 Oct;25(10):1359-1365

Department of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/jamia/ocy056DOI Listing
October 2018

Artificial intelligence in healthcare.

Nat Biomed Eng 2018 Oct 10;2(10):719-731. Epub 2018 Oct 10.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41551-018-0305-zDOI Listing
October 2018

Biomedical informatics and machine learning for clinical genomics.

Hum Mol Genet 2018 05;27(R1):R29-R34

Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/hmg/ddy088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946905PMC
May 2018

Biases in electronic health record data due to processes within the healthcare system: retrospective observational study.

BMJ 2018 04 30;361:k1479. Epub 2018 Apr 30.

Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck St,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925441PMC
http://dx.doi.org/10.1136/bmj.k1479DOI Listing
April 2018

Development of an Algorithm to Identify Patients with Physician-Documented Insomnia.

Sci Rep 2018 May 18;8(1):7862. Epub 2018 May 18.

Center for Systems Biology; Center for Assessment Technology & Continuous Health (CATCH), Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41598-018-25312-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959894PMC
May 2018

Systematic Protein Prioritization for Targeted Proteomics Studies through Literature Mining.

J Proteome Res 2018 04 15;17(4):1383-1396. Epub 2018 Mar 15.

Department of Genetics , Stanford University , Stanford , California 94305 , United States.

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http://dx.doi.org/10.1021/acs.jproteome.7b00772DOI Listing
April 2018

Big Data and Machine Learning in Health Care.

JAMA 2018 Apr;319(13):1317-1318

Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jama.2017.18391DOI Listing
April 2018

Biases in electronic health record data due to processes within the healthcare system: retrospective observational study.

BMJ 2018 04 30;361:k1479. Epub 2018 Apr 30.

Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck St,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925441PMC
http://dx.doi.org/10.1136/bmj.k1479DOI Listing
April 2018

METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE.

Pac Symp Biocomput 2016 ;21:180-182

Department of Biomedical Informatics, Harvard Medical School, Boston, MA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167531PMC
February 2018

Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V.

Autism Res 2018 Feb 31;11(2):355-363. Epub 2017 Oct 31.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/aur.1886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836986PMC
February 2018

Enabling phenotypic big data with PheNorm.

J Am Med Inform Assoc 2018 01;25(1):54-60

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1093/jamia/ocx111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251688PMC
January 2018

Utilization, Cost, and Outcome of Branded vs Compounded 17-Alpha Hydroxyprogesterone Caproate in Prevention of Preterm Birth.

JAMA Intern Med 2017 11;177(11):1689-1690

Department of Biomedical Informatics, Harvard Medical School, Boston Massachusetts.

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http://dx.doi.org/10.1001/jamainternmed.2017.5017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820707PMC
November 2017

Combining clinical and genomics queries using i2b2 - Three methods.

PLoS One 2017 7;12(4):e0172187. Epub 2017 Apr 7.

Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172187PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384666PMC
September 2017

Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.

Cell Syst 2017 08 16;5(2):140-148.e2. Epub 2017 Aug 16.

Computational Health Informatics Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.cels.2017.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928498PMC
August 2017

A 21st-Century Health IT System - Creating a Real-World Information Economy.

N Engl J Med 2017 May;376(20):1905-1907

From the Computational Health Informatics Program, Boston Children's Hospital (K.D.M.), and the Department of Biomedical Informatics, Harvard Medical School (I.S.K.) - both in Boston.

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http://dx.doi.org/10.1056/NEJMp1700235DOI Listing
May 2017

Translating Artificial Intelligence Into Clinical Care.

JAMA 2016 12;316(22):2368-2369

Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jama.2016.17217DOI Listing
December 2016

Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities.

Genome Biol 2016 11 14;17(1):228. Epub 2016 Nov 14.

Department of Biomedical Informatics, Harvard Medical School, 25 Shattuck Street, Boston, 02115, MA, USA.

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http://dx.doi.org/10.1186/s13059-016-1084-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108086PMC
November 2016

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.

Pac Symp Biocomput 2016 ;21:231-42

Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck St., Boston, MA, 02115, USA,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720982PMC
October 2016

A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey.

Sci Data 2016 10 25;3:160096. Epub 2016 Oct 25.

Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck St., Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/sdata.2016.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079122PMC
October 2016

SMART on FHIR: a standards-based, interoperable apps platform for electronic health records.

J Am Med Inform Assoc 2016 09 17;23(5):899-908. Epub 2016 Feb 17.

SMART Health IT Project, Center for Biomedical Informatics, Harvard Medical School, Boston, MA, USA Department of Oral Health Policy and Epidemiology, Harvard School of Dental Medicine, Boston, MA, USA.

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http://dx.doi.org/10.1093/jamia/ocv189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997036PMC
September 2016

Genetic Misdiagnoses and the Potential for Health Disparities.

N Engl J Med 2016 Aug;375(7):655-65

From the Departments of Biomedical Informatics (A.K.M., D.M.M., I.S.K.), Pathology (B.H.F.), and Medicine (B.A.M., J.L.), Harvard Medical School, the Departments of Pathology, Massachusetts General Hospital (B.H.F.), and the Department of Pathology (H.L.R.), Division of Cardiovascular Medicine (B.A.M.), and Department of Medicine (B.A.M., J.L.), Brigham and Women's Hospital, Boston, and the Division of Health Sciences and Technology, Harvard-Massachusetts Institute of Technology (MIT) (A.K.M., I.S.K.), the Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine (B.H.F., H.L.R.), and the Computer Science and Artificial Intelligence Laboratory, MIT (P.S.), Cambridge - all in Massachusetts; and the Laboratory of Molecular Cardiology, Department of Cardiology, the Heart Center, University Hospital of Copenhagen, Rigshospitalet, and the Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen (M.S.O.) - both in Copenhagen.

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http://dx.doi.org/10.1056/NEJMsa1507092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292722PMC
August 2016

SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care.

J Am Med Inform Assoc 2016 07 27;23(4):701-10. Epub 2016 Mar 27.

Boston Children's Hospital Computational Health Informatics Program, Boston, MA, USA Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, USA.

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http://dx.doi.org/10.1093/jamia/ocw015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080684PMC
July 2016

Sentiment Measured in Hospital Discharge Notes Is Associated with Readmission and Mortality Risk: An Electronic Health Record Study.

PLoS One 2015 24;10(8):e0136341. Epub 2015 Aug 24.

Center for Experimental Drugs and Diagnostics, Department of Psychiatry and Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, 6th Floor, Boston, MA 02114, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136341PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547711PMC
May 2016

Treating the enigmatic "exceptional responders" as patients with undiagnosed diseases.

Sci Transl Med 2016 05;8(340):340ed8

Eric D. Perakslis is Senior Vice President, Data Science, Takeda Oncology, and Visiting Faculty, Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA. Email: S. Kohane is Chair and Marion V. Nelson Professor of the Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA. Email:

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http://dx.doi.org/10.1126/scitranslmed.aaf6146DOI Listing
May 2016

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates.

JAMA 2016 Mar 22-29;315(12):1233-4

Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jama.2016.1519DOI Listing
March 2016

ksRepo: a generalized platform for computational drug repositioning.

BMC Bioinformatics 2016 Feb 9;17:78. Epub 2016 Feb 9.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1186/s12859-016-0931-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746802PMC
February 2016

Time for a Patient-Driven Health Information Economy?

N Engl J Med 2016 Jan;374(3):205-8

From the Computational Health Informatics Program, Boston Children's Hospital, and the Department of Biomedical Informatics, Harvard Medical School - both in Boston.

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http://dx.doi.org/10.1056/NEJMp1512142DOI Listing
January 2016

Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures.

Mol Autism 2015 21;6:66. Epub 2015 Dec 21.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA USA ; Children's Hospital Informatics Program, Boston Children's Hospital, Boston, MA USA ; Department of Pediatrics, Harvard Medical School, Boston, MA USA.

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http://www.molecularautism.com/content/6/1/66
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http://dx.doi.org/10.1186/s13229-015-0061-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687343PMC
December 2015

SMART on FHIR Genomics: facilitating standardized clinico-genomic apps.

J Am Med Inform Assoc 2015 Nov 21;22(6):1173-8. Epub 2015 Jul 21.

Children's Hospital Informatics Program, Boston, MA Center for Biomedical Informatics, Harvard Medical School, Boston, MA Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA.

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http://dx.doi.org/10.1093/jamia/ocv045DOI Listing
November 2015

Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Genet Med 2015 Jul 23;17(7):536-44. Epub 2014 Oct 23.

1] Harvard Medical School, Boston, Massachusetts, USA [2] Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA [3] Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2014.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547452PMC
July 2015

HEALTH CARE POLICY. Ten things we have to do to achieve precision medicine.

Authors:
Isaac S Kohane

Science 2015 Jul 2;349(6243):37-8. Epub 2015 Jul 2.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.aab1328DOI Listing
July 2015

Driving Innovation in Health Systems through an Apps-Based Information Economy.

Cell Syst 2015 Jul;1(1):8-13

Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.cels.2015.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556429PMC
July 2015

Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative.

J Am Med Inform Assoc 2014 Nov-Dec;21(6):1060-8. Epub 2014 Jun 26.

Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA Department of Oral Health Policy and Epidemiology, Harvard School of Dental Medicine, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1136/amiajnl-2014-002883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215060PMC
May 2015

A clinical perspective on the relevance of research domain criteria in electronic health records.

Am J Psychiatry 2015 Apr;172(4):316-20

From the Center for Experimental Drugs and Diagnostics, the Department of Psychiatry, and the Center for Human Genetic Research, Massachusetts General Hospital, Boston; and the Department of Medicine, Brigham and Women's Hospital, Boston.

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http://dx.doi.org/10.1176/appi.ajp.2014.14091177DOI Listing
April 2015

Federalist principles for healthcare data networks.

Nat Biotechnol 2015 Apr;33(4):360-3

Boston Children's Hospital, Boston and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/nbt.3180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392383PMC
April 2015

An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.

Authors:
Isaac S Kohane

Biol Psychiatry 2015 Jan 12;77(1):59-65. Epub 2014 Jun 12.

Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2014.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260993PMC
January 2015

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.

Front Genet 2014 18;5:401. Epub 2014 Nov 18.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center Cincinnati, OH, USA ; College of Medicine, University of Cincinnati Cincinnati, OH, USA ; U.S. Department of Veterans Affairs Medical Center Cincinnati, OH, USA.

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http://dx.doi.org/10.3389/fgene.2014.00401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235428PMC
December 2014

Stratification of risk for hospital admissions for injury related to fall: cohort study.

BMJ 2014 Oct 24;349:g5863. Epub 2014 Oct 24.

Center for Experimental Drugs and Diagnostics, Department of Psychiatry, Massachusetts General Hospital, Simches Research Building 6th Floor, 185 Cambridge St, Boston, MA 20114, USA Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Simches Research Building 6th Floor, 185 Cambridge St, Boston, MA 02114, USA

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208628PMC
http://dx.doi.org/10.1136/bmj.g5863DOI Listing
October 2014

Rare copy number variation in treatment-resistant major depressive disorder.

Biol Psychiatry 2014 Oct 19;76(7):536-41. Epub 2014 Jan 19.

Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Partners HealthCare System, Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2013.10.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104153PMC
October 2014

Early detection of poor adherers to statins: applying individualized surveillance to pay for performance.

PLoS One 2013 4;8(11):e79611. Epub 2013 Nov 4.

Children's Hospital Informatics Program at Harvard-Massachusetts Institute of Technology Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America ; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079611PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817130PMC
August 2014

Modeling disease severity in multiple sclerosis using electronic health records.

PLoS One 2013 11;8(11):e78927. Epub 2013 Nov 11.

Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America ; Harvard Medical School, Boston, Massachusetts, United States of America ; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078927PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823928PMC
August 2014

Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.

Hum Mutat 2014 Aug 24;35(8):936-44. Epub 2014 Jun 24.

Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts; School of Computer Science and Engineering, Soongsil University, Seoul, 156-743, South Korea.

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http://dx.doi.org/10.1002/humu.22587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112476PMC
August 2014

An electronic health records study of long-term weight gain following antidepressant use.

JAMA Psychiatry 2014 Aug;71(8):889-96

Center for Experimental Drugs and Diagnostics, Department of Psychiatry, Massachusetts General Hospital, Boston2Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1001/jamapsychiatry.2014.414DOI Listing
August 2014

Medicine's uncomfortable relationship with math: calculating positive predictive value.

JAMA Intern Med 2014 Jun;174(6):991-3

Department of Veterans Affairs (VA) Boston Healthcare System, Harvard Medical School, Boston, Massachusetts5Merck Medical Information and Innovation, Merck and Company, Boston, Massachusetts6Department of Health Care Policy, Harvard Medical School, Boston.

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http://dx.doi.org/10.1001/jamainternmed.2014.1059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955674PMC
June 2014

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.

Hum Mutat 2014 May 6;35(5):537-47. Epub 2014 Mar 6.

Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, 02115.

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http://dx.doi.org/10.1002/humu.22520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130156PMC
May 2014

Population-level evidence for an autoimmune etiology of epilepsy.

JAMA Neurol 2014 May;71(5):569-74

Children's Hospital Informatics Program at Harvard-Massachusetts Institute of Technology Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts3Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamaneurol.2014.188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324719PMC
May 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls.

Trends Mol Med 2014 Feb 24;20(2):91-104. Epub 2013 Dec 24.

Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2013.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117413PMC
February 2014

Extracting physician group intelligence from electronic health records to support evidence based medicine.

PLoS One 2013 29;8(5):e64933. Epub 2013 May 29.

Information Technology, Harvard Medical School, Boston, Massachusetts, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064933PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666978PMC
January 2014

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

Front Genet 2013 3;4:268. Epub 2013 Dec 3.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center Cincinnati, OH, USA ; Cincinnati Children's Hospital Medical Center Cincinnati, OH, USA ; School of Medicine, University of Cincinnati Cincinnati, OH, USA ; Department of Veteran Affairs Medical Center Cincinnati, OH, USA.

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http://journal.frontiersin.org/article/10.3389/fgene.2013.00
Publisher Site
http://dx.doi.org/10.3389/fgene.2013.00268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847941PMC
December 2013

Urinary-cell mRNA and acute kidney-transplant rejection.

N Engl J Med 2013 11;369(19):1859

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http://dx.doi.org/10.1056/NEJMc1310006DOI Listing
November 2013

Secondary use of health information: are we asking the right question?

Authors:
Isaac S Kohane

JAMA Intern Med 2013 Oct;173(19):1806-7

Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamainternmed.2013.8276DOI Listing
October 2013

Improved de-identification of physician notes through integrative modeling of both public and private medical text.

BMC Med Inform Decis Mak 2013 Oct 2;13:112. Epub 2013 Oct 2.

Harvard Medical School Center for Biomedical Informatics, Boston, MA USA.

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http://dx.doi.org/10.1186/1472-6947-13-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907029PMC
October 2013

Can we measure autism?

Sci Transl Med 2013 Oct;5(209):209ed18

Isaac S. Kohane is Co-Director of the Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA, and the Lawrence J. Henderson Professor of Pediatrics, Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/scitranslmed.3007340DOI Listing
October 2013

Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome.

BMC Med Genomics 2013 Sep 24;6:34. Epub 2013 Sep 24.

Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1186/1755-8794-6-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849321PMC
September 2013

Scalable decision support at the point of care: a substitutable electronic health record app for monitoring medication adherence.

Interact J Med Res 2013 Jul 22;2(2):e13. Epub 2013 Jul 22.

Children's Hospital Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.2196/ijmr.2480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3815431PMC
July 2013

Genomic medicine, health information technology, and patient care.

JAMA 2013 Apr;309(14):1467-8

Health Sciences Research, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1001/jama.2013.1414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959893PMC
April 2013

A glimpse of the next 100 years in medicine.

N Engl J Med 2012 Dec;367(26):2538-9

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http://dx.doi.org/10.1056/NEJMe1213371DOI Listing
December 2012