Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

Published:2019-11-11 Issue:2 Volume:41 Page:525-531
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Watson Christopher M.¹²^ORCID,Dean Philip¹,Camm Nick¹,Bates Jennifer¹,Carr Ian M.²,Gardiner Carol A.³,Bonthron David T.¹²

Affiliation:

1. Yorkshire Regional Genetics ServiceSt. James's University Hospital Leeds UK

2. Leeds Institute of Medical ResearchSt. James's University Hospital, University of Leeds Leeds UK

3. West of Scotland Regional Genetics ServicesQueen Elizabeth University Hospital Glasgow UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23940

Reference21 articles.

1. NanoPack: visualizing and processing long-read sequencing data

2. A framework for variation discovery and genotyping using next-generation DNA sequencing data

3. The Third Revolution in Sequencing Technology

4. Systematic analysis of dark and camouflaged genes: Disease‐relevant genes hiding in plain sight;Ebbert M. T. W.;bioRxiv,2019

5. Ellard S. Baple E. L. Owens M. Eccles D. M. Turnbull C. Abbs S. …McMullan D. J.;ACGS Best Practice Guidelines for Variant Classification(2018).Association for Clinical Genomic Science. Retrieved fromhttp://www.acgs.uk.com/media/1140458/uk_practice_guidelines_for_variant_classification_2018_v1.0.pdf

Cited by 21 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. Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population;Gene;2024-11

2. Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever;Practical Laboratory Medicine;2024-08

3. Long-read sequencing for brain tumors;Frontiers in Oncology;2024-06-10

4. Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia;European Journal of Human Genetics;2024-04-11

5. Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome;Frontiers in Genetics;2023-09-06