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pgxRpi: an R/Bioconductor package for user-friendly access to the Beacon v2 API

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By Hangjia Zhao, Michael Baudis
| biorxiv.org
Abstract Motivation: The Beacon v2 specification, established by the Global Alliance for Genomics and Health (GA4GH), consists of a standardized framework and data models for genomic and phenotypic data discovery. By enabling secure, federated data sharing, it fosters interoperability across genomic resources.
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labelSeg: segment annotation for tumor copy number alteration profiles

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By Hangjia Zhao, Michael Baudis
| biorxiv.org
Abstract Somatic copy number alterations (SCNA) are a predominant type of oncogenomic alterations that affect a large proportion of the genome in the majority of cancer samples. Current technologies allow high-throughput measurement of such copy number aberrations, generating results consisting of frequently large sets of SCNA segments.
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LabelSeg: segment annotation for tumor copy number alteration profiles

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By Michael Baudis, Hangjia Zhao
| biorxiv.org
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