Evaluation of Genome Conversion to Genome Reference Consortium Human Build 38 from Human Genome 19-Reference-Cited by-同舟云学术

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Evaluation of Genome Conversion to Genome Reference Consortium Human Build 38 from Human Genome 19

Published:2023-12-31 Issue:4 Volume:45 Page:180-186
ISSN:2950-9114
Container-title:Journal of Laboratory Medicine and Quality Assurance
language:en
Short-container-title:J Lab Med Qual Assur

Author:

Park Kyoung-Jin¹^ORCID,Park Jong-Ho²^ORCID

Affiliation:

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

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

Funder

Korean Association of External Quality Assessment Service

Publisher

Korean Association of Quality Assurance for Clinical Laboratory

Link

https://pdf.medrang.co.kr/LMQA/2023/045/lmqa-45-4-180.pdf

Reference10 articles.

1. Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis

2. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

3. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies

4. Exome variant discrepancies due to reference-genome differences

5. Clinical Utility of Factor V Leiden (R506Q) Testing for the Diagnosis and Management of Thromboembolic Disorders

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