Systematic assessment of structural variant annotation tools for genomic interpretation

Xuanshi Liu; Lei Gu; Chanjuan Hao; Wenjian Xu; Fei Leng; Peng Zhang; Wei Li

doi:10.26508/lsa.202402949

Resource

Open Access

Systematic assessment of structural variant annotation tools for genomic interpretation

View ORCID ProfileXuanshi Liu, Lei Gu, Chanjuan Hao, Wenjian Xu, Fei Leng, Peng Zhang, View ORCID ProfileWei Li Correspondence email

Xuanshi Liu

1Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, National Center for Children’s Health; Beijing Children’s Hospital, Capital Medical University, Beijing, China

Roles: Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Visualization, Writing—original draft, Writing—review and editing

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site
ORCID record for Xuanshi Liu

Lei Gu

2Epigenetics Laboratory, Max-Planck Institute for Heart and Lung Research, Cardiopulmonary Institute, Bad Nauheim, Germany

Roles: Visualization, Methodology, Writing—review and editing

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Chanjuan Hao

Roles: Supervision, Project administration, Interpretation of the data

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Wenjian Xu

Roles: Methodology, Interpretation of the data

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Fei Leng

Roles: Interpretation of the data

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Peng Zhang

Roles: Validation, Visualization, Interpretation of the data

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Wei Li

Roles: Supervision, Funding acquisition, Project administration, Writing—review and editing

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site
ORCID record for Wei Li
For correspondence: liwei{at}bch.com.cn

Published 10 December 2024. DOI: 10.26508/lsa.202402949

Article
Figures & Data
Info
Metrics
Reviewer Comments
PDF

You are using an old browser, click here to download PDF

PDF Container

PreviousNext

Download PDF

Email Article

Thank you for your interest in spreading the word on Life Science Alliance.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Your Email *

Your Name *

Send To *

Enter multiple addresses on separate lines or separate them with commas.

You are going to email the following Systematic assessment of structural variant annotation tools for genomic interpretation

Message Subject (Your Name) has sent you a message from Life Science Alliance

Message Body (Your Name) thought you would like to see the Life Science Alliance web site.

Your Personal Message

CAPTCHA

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Citation Tools

Benchmarking SV prioritization tools

Xuanshi Liu, Lei Gu, Chanjuan Hao, Wenjian Xu, Fei Leng, Peng Zhang, Wei Li

Life Science Alliance Dec 2024, 8 (3) e202402949; DOI: 10.26508/lsa.202402949

Citation Manager Formats

BibTeX
Bookends
EasyBib
EndNote (tagged)
EndNote 8 (xml)
Medlars
Mendeley
Papers
RefWorks Tagged
Ref Manager
RIS
Zotero

Benchmarking SV prioritization tools

Xuanshi Liu, Lei Gu, Chanjuan Hao, Wenjian Xu, Fei Leng, Peng Zhang, Wei Li

Life Science Alliance Dec 2024, 8 (3) e202402949; DOI: 10.26508/lsa.202402949

Share This Article:

Tweet Widget
Bluesky

In this Issue

Volume 8, No. 3

March 2025

Table of Contents
Cover (PDF)
About the Cover
Masthead (PDF)

Jump to section

Article
Figures & Data
Info
Metrics
Reviewer Comments
PDF

Subjects

Genomics & Functional Genomics
Methods & Resources
Systems & Computational Biology

No related articles found.

Cited By...

No citing articles found.

Google Scholar

Main menu

User menu

Search

Systematic assessment of structural variant annotation tools for genomic interpretation

Citation Manager Formats

In this Issue

Subjects

Related Articles

Cited By...

More in this TOC Section

Similar Articles

Content

For Authors

Other Services

More Information