Work

Temporal Analysis of Clinical Variant Reclassification (2012-2025): analysis pipeline, processed data, and interactive companion

Year: 2026

Type: software

Abstract: Open-source analysis pipeline, processed result data, publication figures, and an interactive web companion for the study Temporal Analysis of Clinical Variant Reclassification (2012-2025) (submitted to Genome Medicine). A longitudinal reprocessing of 3,678,303 ClinVar variants across 148 monthly XML snapshots (November 2012 - July 2025), distinguishing genuine clinical reinterpretation from artifacts of database/schema evolution. ClinVar submitter identities are anonymized to coded labels (Laboratory A, B, C, ...) by submission rank, consistent with the manuscript. The multi-GB intermediate tables are not redistributed here; they are regenerated by the pipeline from the source data. Source data: the public-domain NCBI ClinVar monthly XML releases (https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/).

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.21326732

Authors: Liang, Yilun, Zhang, Gongbo, Babb, Larry, Rehm, Heidi L., Nestor, Jordan G., Kneifati-Hayek, Jerard Z., Luo, Yiming, Krishna Murthy, Sarath B., Shen, Yufeng, Wang, Kai, Chung, Wendy K., Weng, Chunhua

Institutions: Columbia University, Broad Institute, Harvard University, Massachusetts General Hospital, Massachusetts Institute of Technology, Columbia University Irving Medical Center, Children's Hospital of Philadelphia, University of Pennsylvania, Boston Children's Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

OpenAlex ID: W7168079809

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