Research Topics
Genomes and Genes
| Soumya RaychaudhuriSummaryAffiliation: Massachusetts Institute of Technology Country: USA Publications
| Collaborators
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Detail Information
Publications
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletionsSoumya Raychaudhuri
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
PLoS Genet 5:e1000534. 2009..An online version of this method is available for public use (http://www.broad.mit.edu/mpg/grail/)...
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis riskSoumya Raychaudhuri
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 41:1313-8. 2009..0008 replication, P = 4 x 10(-6) overall) and FCGR2A (rs12746613, P = 0.0022 replication, P = 2 x 10(-5) overall). Many of these loci are also associated to other immunologic diseases...
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenerationYi Yu
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 WashingtonStreet, No 450, Boston, MA 02111, USA
Hum Mol Genet 20:3699-709. 2011..The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD...
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lociEli A Stahl
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 42:508-14. 2010..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles...
A rare penetrant mutation in CFH confers high risk of age-related macular degenerationSoumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 43:1232-6. 2011..This result suggests that loss-of-function alleles at CFH are likely to drive AMD risk. This finding represents one of the first instances in which a common complex disease variant has led to the discovery of a rare penetrant mutation...
Common variants at CD40 and other loci confer risk of rheumatoid arthritisSoumya Raychaudhuri
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1216-23. 2008..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall)...
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)Benjamin M Neale
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 107:7395-400. 2010..Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD...
Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapyJing Cui
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 62:1849-61. 2010..The aim of the present study was to test established RA genetic risk factors to determine whether the same alleles also influence the response to anti-TNF therapy...
Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsetsXinli Hu
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 89:496-506. 2011..Our approach has application in other phenotypes, outside of autoimmunity, where many loci have been discovered and high-quality cell-type-specific gene expression is available...
Practical aspects of imputation-driven meta-analysis of genome-wide association studiesPaul I W de Bakker
Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School Partners Healthcare Systems Center for Genetics and Genomics, Boston, MA 02115, USA
Hum Mol Genet 17:R122-8. 2008..As many groups are forming collaborations to engage in these efforts, this review collects a series of guidelines, practical detail and learned experiences from a variety of individuals who have contributed to the subject...
Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritisRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA
Rheum Dis Clin North Am 36:259-70. 2010....
Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health recordsFina Kurreeman
Division of Rheumatology, Immunology, and Allergy and Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA
Am J Hum Genet 88:57-69. 2011....
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritisSoumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 44:291-6. 2012..This study shows how imputation of functional variation from large reference panels can help fine map association signals in the MHC...
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12Fina A S Kurreeman
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, 02115, USA
Am J Hum Genet 90:524-32. 2012....
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysisBenjamin F Voight
Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
Nat Genet 42:579-89. 2010..We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits...
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biologyElizabeth J Rossin
Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
PLoS Genet 7:e1001273. 2011....
Recent advances in the genetics of rheumatoid arthritisSoumya Raychaudhuri
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Curr Opin Rheumatol 22:109-18. 2010..To review the recently discovered genetic risk loci in rheumatoid arthritis (RA), the pathways they implicate, and the genetic architecture of RA...
The PRL -1149 G/T polymorphism and rheumatoid arthritis susceptibilityYvonne C Lee
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 60:1250-4. 2009..The aim of this study was to determine the role of the PRL -1149 G/T polymorphism (rs1341239) in rheumatoid arthritis (RA) susceptibility...
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility lociPhilip L De Jager
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 41:776-82. 2009....
Mapping rare and common causal alleles for complex human diseasesSoumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Cell 147:57-69. 2011....
Electronic medical records for discovery research in rheumatoid arthritisKatherine P Liao
Brigham and Women s Hospital, Boston, Massachusetts, USA
Arthritis Care Res (Hoboken) 62:1120-7. 2010..We assessed whether a classification algorithm incorporating narrative EMR data (typed physician notes) more accurately classifies subjects with rheumatoid arthritis (RA) compared with an algorithm using codified EMR data alone...
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass indexElizabeth K Speliotes
Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
Nat Genet 42:937-48. 2010..Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation...
The Lin28/let-7 axis regulates glucose metabolismHao Zhu
Stem Cell Transplantation Program, Division of Pediatric Hematology Oncology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, MA, USA
Cell 147:81-94. 2011..These data establish the Lin28/let-7 pathway as a central regulator of mammalian glucose metabolism...
VIZ-GRAIL: visualizing functional connections across disease lociSoumya Raychaudhuri
Divisions of Genetics and Rheumatology, Brigham and Women s Hospital, Boston, MA 02115, USA
Bioinformatics 27:1589-90. 2011..Here, we have implemented VIZ-GRAIL, a software tool to display those relationships and to depict the underlying biological patterns...
