Variant Call Format Normalization Contributes to the Accuracy of Variant Nomenclature-Reference-Cited by-同舟云学术

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Variant Call Format Normalization Contributes to the Accuracy of Variant Nomenclature

Published:2022-12-31 Issue:4 Volume:44 Page:212-215
ISSN:2950-9114
Container-title:Journal of Laboratory Medicine and Quality Assurance
language:en
Short-container-title:J Lab Med Qual Assur

Author:

You Eunkyoung¹^ORCID,Park Jong-Ho²^ORCID,Park Chang-Hun³^ORCID,Park Kyoung-Jin³^ORCID

Affiliation:

1. Department of Laboratory Medicine, Inje University Busan Paik Hospital, Inje University College of Medicine, Busan, Korea

2. Clinical Genomics Center, Samsung Medical Center, Seoul, Korea

3. Department of Laboratory Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea

Funder

Korean Association of External Quality Assessment Service

Publisher

Korean Association of Quality Assurance for Clinical Laboratory

Link

http://pdf.medrang.co.kr/LMQA/2022/044/lmqa-44-4-212.pdf

Reference6 articles.

1. The variant call format and VCFtools

2. Improved VCF normalization for accurate VCF comparison

3. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

4. Unified representation of genetic variants

5. Choi KT. Current status of bioinformatics pipeline. https://ksgd.org/index.php?hCode=REF_VIEW&cl_Type=W&cl_Idx=35 (Accessed September 14, 2021).

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