S
Soma Das
Researcher at University of Chicago
Publications - 162
Citations - 29990
Soma Das is an academic researcher from University of Chicago. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 55, co-authored 160 publications receiving 22523 citations. Previous affiliations of Soma Das include University of Illinois at Chicago & NorthShore University HealthSystem.
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Journal ArticleDOI
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Catherine Rehder,Lora J. H. Bean,David P. Bick,Elizabeth C. Chao,Wendy K. Chung,Soma Das,Julianne M. O’Daniel,Heidi L. Rehm,Heidi L. Rehm,Vandana Shashi,Lisa M. Vincent +10 more
TL;DR: The American College of Medical Genetics and Genomics (ACMGG) has developed the following technical standards for next-generation sequencing (NGS) applications as discussed by the authors : validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve.
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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Darrel Waggoner,Gordana Raca,Katherine Welch,Melissa A Dempsey,Ethan Anderes,Irina Ostrovnaya,Asem Alkhateeb,Junichi Kamimura,Junichi Kamimura,Naomichi Matsumoto,Naomichi Matsumoto,G Bradley Schaeffer,Christa Lese Martin,Christa Lese Martin,Soma Das +14 more
TL;DR: The dramatic decrease in the frequency of finding NSD1 abnormalities in the clinical laboratory is likely because of the heterogeneity of the patient population, and the experience from a diagnostic laboratory can help guide clinicians in deciding for whom N SD1 genetic analysis is indicated.
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Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients
James D. Fackenthal,Lise Sveen,Qing Gao,E K Kohlmeir,Clement Adebamowo,T. O. Ogundiran,A Adenipekun,Rasheed A Oyesegun,O B Campbell,Charles N. Rotimi,Effiong E. Akang,Soma Das,Olufunmilayo I. Olopade +12 more
TL;DR: It is suggested that there might be a genetic component to breast cancer susceptibility in families of African ancestry, less common in African populations than in other populations but, when it does occur, it is characterised by an early age of onset and a higher mortality.
Journal ArticleDOI
Methylation Analysis of the Fragile X Syndrome by PCR
Soma Das,T. Kubota,M. Song,Roy Thomas Daniel,Elizabeth Berry-Kravis,T.W. Prior,B. Popovich,L. Rosser,T. Arinami,David H. Ledbetter +9 more
TL;DR: A PCR-based method for the analysis of methylation of the FMR1 gene, which involves bisulfite treatment of DNA prior to amplification, appears to be a rapid and reliable tool for the diagnosis of fragile X males.
Journal ArticleDOI
Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers
Dana Ziliak,Peter H. O'Donnell,Hae Kyung Im,Eric R. Gamazon,Peixian Chen,Shannon M. Delaney,Sunita J. Shukla,Soma Das,Nancy J. Cox,Everett E. Vokes,Ezra E.W. Cohen,M. Eileen Dolan,R. Stephanie Huang +12 more
TL;DR: It is demonstrated importantly that a genome-wide, cell-based model can identify novel germline genetic biomarkers of platinum susceptibility, which are replicable in a clinical setting with treated cancer patients and seem clinically meaningful for potentially enabling future personalization of care in such patients.