Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations-Reference-Cited by-同舟云学术

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Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations

Published:2022-10-03 Issue:1 Volume:103 Page:35-44
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Kim Hongkyung¹^ORCID,Shim Yeeun²^ORCID,Lee Taek Gyu²^ORCID,Won Dongju¹^ORCID,Choi Jong Rak¹³^ORCID,Shin Saeam¹^ORCID,Lee Seung‐Tae¹³^ORCID

Affiliation:

1. Department of Laboratory Medicine Yonsei University College of Medicine, Severance Hospital Seoul Republic of Korea

2. Brain Korea 21 PLUS Project for Medical Science Yonsei University Seoul Republic of Korea

3. Dxome Co. Ltd Seongnam‐si Gyeonggi‐do Republic of Korea

Funder

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14236

Reference43 articles.

1. Advancements in Next-Generation Sequencing

2. Genetics of neuromuscular disorders

3. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

4. Statistical challenges associated with detecting copy number variations with next-generation sequencing

5. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

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1. Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples;Clinica Chimica Acta;2024-06

2. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases;JAMA Network Open;2024-05-31

3. Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes;Cancer Cell International;2024-05-19

4. Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights;Frontiers in Oncology;2024-03-13

5. Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies;Annals of Laboratory Medicine;2024-03-04

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