Search research articles
Contact Us
Filters
Showing results (1-10 of 9) with videos related to
Page
of 1
Sort By:
Bioinformatics (Oxford, England)
|
April 22, 2020
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
Garrett Jenkinson, Yang I Li, Shubham Basu, et al.
Plos One
|
December 2, 2021
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, et al.
Cold Spring Harbor Molecular Case Studies
|
October 31, 2019
An intragenic duplication of <i>TRPS1</i> leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
Cinthya J Zepeda-Mendoza, Margot A Cousin, Shubham Basu, et al.
The Journal of Molecular Diagnostics : JMD
|
May 26, 2023
MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning
Jagadheshwar Balan, Tejaswi Koganti, Shubham Basu, et al.
The Journal of Molecular Diagnostics : JMD
|
April 6, 2024
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
Cody J Artymiuk, Shubham Basu, Tejaswi Koganti, et al.
Plos One
|
October 3, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, et al.
Plos One
|
July 6, 2019
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy
Eric D Wieben, Ross A Aleff, Shubham Basu, et al.
Genetics in Medicine Open
|
November 10, 2025
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Parisa K Kargaran, Qiliang Ding, Lauren A Choate, et al.
The Journal of Molecular Diagnostics : JMD
|
June 26, 2024
Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data
Nipun A Mistry, Samantha E Roellinger, Matthew C Manninen, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Bioinformatics (Oxford, England)
|
April 22, 2020
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
Garrett Jenkinson, Yang I Li, Shubham Basu, et al.
Plos One
|
December 2, 2021
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, et al.
Cold Spring Harbor Molecular Case Studies
|
October 31, 2019
An intragenic duplication of <i>TRPS1</i> leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
Cinthya J Zepeda-Mendoza, Margot A Cousin, Shubham Basu, et al.
The Journal of Molecular Diagnostics : JMD
|
May 26, 2023
MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning
Jagadheshwar Balan, Tejaswi Koganti, Shubham Basu, et al.
The Journal of Molecular Diagnostics : JMD
|
April 6, 2024
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
Cody J Artymiuk, Shubham Basu, Tejaswi Koganti, et al.
Plos One
|
October 3, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, et al.
Plos One
|
July 6, 2019
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy
Eric D Wieben, Ross A Aleff, Shubham Basu, et al.
Genetics in Medicine Open
|
November 10, 2025
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Parisa K Kargaran, Qiliang Ding, Lauren A Choate, et al.
The Journal of Molecular Diagnostics : JMD
|
June 26, 2024
Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data
Nipun A Mistry, Samantha E Roellinger, Matthew C Manninen, et al.
Page
of 1