Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions-Reference-Cited by-同舟云学术

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Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions

Published:2017-07-24 Issue:7 Volume:12 Page:e0181304
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Seo Heewon,Park Yoomi,Min Byung Joo,Seo Myung Eui,Kim Ju Han

Funder

Ministry of Health and Welfare, Korea

Ministry of Food and Drug Safety (KR)

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference23 articles.

1. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases;Genome Biol,2015

2. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita;G Ravenscroft;Am J Hum Genet,2015

3. Paternally Inherited IGF2 Mutation and Growth Restriction;M Begemann;N Engl J Med,2015

4. Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies;E Damiati;Hum Genet,2016

5. A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers;M Quail;BMC Genomics,2012

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1. In silico assessment of DNA damage response gene variants associated with head and neck cancer;Journal of Biomolecular Structure and Dynamics;2022-01-17

2. Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange;Scientific Reports;2021-01-26

3. CaReAl: capturing read alignments in a BAM file rapidly and conveniently;Journal of Big Data;2021-01-26

4. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy;Frontiers in Neurology;2019-05-21

5. Identification of genetic alterations in extramammary Paget disease using whole exome analysis;Journal of Dermatological Science;2019-04

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