Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis

Rachel Knevel; Saskia le Cessie; Chikashi C. Terao; Kamil Slowikowski; Jing Cui; Tom W. J. Huizinga; Karen H. Costenbader; Katherine P. Liao; Elizabeth W. Karlson; Soumya Raychaudhuri

doi:10.1126/scitranslmed.aay1548

Research ArticleRHEUMATIC DISEASE

Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis

View ORCID ProfileRachel Knevel ¹,²,³,
View ORCID ProfileSaskia le Cessie⁴,
View ORCID ProfileChikashi C. Terao⁵,⁶,⁷,
View ORCID ProfileKamil Slowikowski ³,⁸,⁹,¹⁰,
Jing Cui¹,
View ORCID ProfileTom W. J. Huizinga²,
Karen H. Costenbader ¹,
View ORCID ProfileKatherine P. Liao ¹,¹¹,
Elizabeth W. Karlson ¹ and
View ORCID ProfileSoumya Raychaudhuri ¹,³,⁸,⁹,¹⁰,¹²,*

¹Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
²Department of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, Netherlands.
³Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
⁴Department of Clinical Epidemiology and Department of Biomedical Data Sciences, Leiden University Medical Center, 2333 ZA Leiden, Netherlands.
⁵Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan.
⁶Clinical Research Center, Shizuoka General Hospital, Shizuoka 230-0045, Japan.
⁷Department of Applied Genetics, School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 420-8527, Japan.
⁸Center for Data Sciences, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
⁹Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA.
¹⁰Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
¹¹Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA.
¹²Centre for Genetics and Genomics Versus Arthritis and Centre for Musculoskeletal Research, Manchester M13 9PL, UK.

↵*Corresponding author. Email: soumya{at}broadinstitute.org

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Science Translational Medicine 27 May 2020:
Vol. 12, Issue 545, eaay1548
DOI: 10.1126/scitranslmed.aay1548

Rachel Knevel

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

2Department of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, Netherlands.

3Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

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ORCID record for Rachel Knevel

Saskia le Cessie

4Department of Clinical Epidemiology and Department of Biomedical Data Sciences, Leiden University Medical Center, 2333 ZA Leiden, Netherlands.

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ORCID record for Saskia le Cessie

Chikashi C. Terao

5Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan.

6Clinical Research Center, Shizuoka General Hospital, Shizuoka 230-0045, Japan.

7Department of Applied Genetics, School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 420-8527, Japan.

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Kamil Slowikowski

3Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

8Center for Data Sciences, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

9Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA.

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

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Jing Cui

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

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Tom W. J. Huizinga

2Department of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, Netherlands.

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Karen H. Costenbader

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

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Katherine P. Liao

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

11Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA.

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Elizabeth W. Karlson

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

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Soumya Raychaudhuri

1Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

3Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

8Center for Data Sciences, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

9Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA.

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

12Centre for Genetics and Genomics Versus Arthritis and Centre for Musculoskeletal Research, Manchester M13 9PL, UK.

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ORCID record for Soumya Raychaudhuri
For correspondence: soumya@broadinstitute.org

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Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis

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