Clinically Responsive Genomic Analysis Pipelines-Reference-Cited by-同舟云学术

Clinically Responsive Genomic Analysis Pipelines

Published:2021-07 Issue:7 Volume:23 Page:894-905
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Sundercombe Samantha Leigh^ORCID,Berbic Marina,Evans Carey-Anne,Cliffe Corrina,Elakis George,Temple Suzanna E.L.,Selvanathan Arthavan,Ewans Lisa,Quayum Nila^ORCID,Nixon Cheng-Yee,Dias Kerith-Rae^ORCID,Lang Sarah,Richards Anna,Goh Shuxiang^ORCID,Wilson Meredith,Mowat David,Sachdev Rani,Sandaradura Sarah^ORCID,Walsh Maie,Farrar Michelle A.,Walsh Rebecca,Fletcher Janice,Kirk Edwin P.,Teunisse Guus M.,Schofield Deborah,Buckley Michael Francis,Zhu Ying,Roscioli Tony

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference41 articles.

1. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases;Clark;NJP Gen Med,2018

2. Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular Pathology and the College of American Pathologists;Roy;J Mol Diagn,2018

3. Medical implications of technical accuracy in genome sequencing;Goldfeder;Genome Med,2016

4. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing;O'Rawe;Genome Med,2013

5. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings;Hwang;Sci Rep,2019

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort;Genetics in Medicine;2024-05

2. Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-08-31

3. De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues;Human Genetics;2023-05-17

4. Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database;Frontiers in Genetics;2023-05-04

5. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review;American Journal of Medical Genetics Part A;2023-04-09