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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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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
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Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan.

TL;DR: UGT1A1 genotype and total bilirubin levels are strongly associated with severe neutropenia, and could be used to identify cancer patients predisposed to the severe toxicity of irinotecan.
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

TL;DR: The ACMG strongly recommends that the clinical and technical validation of sequence variation detection be performed in a CLIA-approved laboratory and interpreted by a board-certified clinical molecular geneticist or equivalent.
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UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity

TL;DR: It is suggested that screening for UGT1A1*28 polymorphism may identify patients with lower SN-38 glucuronidation rates and greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity.