Publications by authors named "Shubham Basu"

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Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.
Parisa K Kargaran, Qiliang Ding, Lauren A Choate, Heidi L Sellers, Mariam I Stein, Shubham Basu

Genet Med Open· November 2025

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Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.
Nipun A Mistry, Samantha E Roellinger, Matthew C Manninen, Mallika Gandham, Tejaswi Koganti, Shubham Basu

J Mol Diagn· September 2024

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Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies.
Cody J Artymiuk, Shubham Basu, Tejaswi Koganti, Pratyush Tandale, Jagadheshwar Balan

J Mol Diagn· July 2024

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MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning.
Jagadheshwar Balan, Tejaswi Koganti, Shubham Basu, Michelle A Dina, Cody J Artymiuk

J Mol Diagn· August 2023

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Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.
Eric D Wieben, Ross A Aleff, Tommy A Rinkoski, Keith H Baratz, Shubham Basu

PLoS One· January 2022

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LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
Garrett Jenkinson, Yang I Li, Shubham Basu, Margot A Cousin, Gavin R Oliver

Bioinformatics· November 2020

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Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
Eric D Wieben, Ross A Aleff, Shubham Basu, Vivekananda Sarangi, Brett Bowman

PLoS One· March 2020

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Shubham Basu

PLoS One· March 2020

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An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.
Cinthya J Zepeda-Mendoza, Margot A Cousin, Shubham Basu, Garrett Jenkinson, Gavin Oliver

Cold Spring Harb Mol Case Stud· December 2019

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