Search Results - "Tandale, Pratyush"
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Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data
Published in The Journal of molecular diagnostics : JMD (01-09-2024)“…PMS2 is one of the DNA-mismatch repair genes included in routine genetic testing for Lynch syndrome and colorectal, ovarian, and endometrial cancers. PMS2 is…”
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Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
Published in The Journal of molecular diagnostics : JMD (01-07-2023)“…Genome sequencing (GS) is a powerful clinical tool used for the comprehensive diagnosis of germline disorders. GS library preparation typically involves…”
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Sepsis in the era of data-driven medicine: personalizing risks, diagnoses, treatments and prognoses
Published in Briefings in bioinformatics (15-07-2020)“…Abstract Sepsis is a series of clinical syndromes caused by the immunological response to infection. The clinical evidence for sepsis could typically attribute…”
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Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
Published in The Journal of molecular diagnostics : JMD (01-07-2024)“…Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphologic, immunophenotypic, and clinical…”
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5
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders
Published in Genetics in medicine (01-03-2022)Get full text
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30. A cost-effective bioinformatics triage strategy for testing PMS2 using short-read next generation sequencing
Published in Cancer genetics (01-01-2022)Get full text
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7
Generation of a Compendium of Transcription Factor Cascades and Identification of Potential Therapeutic Targets using Graph Machine Learning
Published 29-11-2023“…Transcription factors (TFs) play a vital role in the regulation of gene expression thereby making them critical to many cellular processes. In this study, we…”
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