Variant Call Format–Diagnostic Annotation and Reporting Tool-Reference-Cited by-同舟云学术

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Variant Call Format–Diagnostic Annotation and Reporting Tool

Published:2019-11 Issue:6 Volume:21 Page:951-960
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Benton Miles C.,Smith Robert A.,Haupt Larisa M.,Sutherland Heidi G.,Dunn Paul J.,Albury Cassie L.,Maksemous Neven,Lea Rodney,Griffiths Lyn

Funder

National Health and Medical Research Council

Queensland University of Technology

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference26 articles.

1. Review of current methods applications, and data management for the bioinformatics analysis of whole exome sequencing;Bao;Cancer Inform,2014

2. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene gene panel, or exome/genome sequencing;Xue;Genet Med,2014

3. Next-generation diagnostics: gene panel exome, or whole genome?;Sun;Hum Mutat,2015

4. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients;Lim;Hum Genomics,2015

5. iMir: an integrated pipeline for high-throughput analysis of small non-coding RNA data obtained by smallRNA-Seq;Giurato;BMC Bioinformatics,2013

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1. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28

2. Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology;Human Genetics;2023-07-08

3. DrOGA: An Artificial Intelligence Solution for Driver-Status Prediction of Genomics Mutations in Precision Cancer Medicine;IEEE Access;2023

4. Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine;Frontiers in Molecular Neuroscience;2022-07-19

5. Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach;Journal of Neurotrauma;2020-09-01

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