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AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.

Nucleic acids research - 2 Jul 2021

Geoffroy Véronique, Guignard Thomas, Kress Arnaud, Gaillard Jean-Baptiste, Solli-Nowlan Tor, Schalk Audrey, Gatinois Vincent, Dollfus Hélène, Scheidecker Sophie, Muller Jean

Abstract excerpt

With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing and array-based techniques. While the identification of the complete SV repertoire of a patient is getting possible, the interpretation of each SV remains...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34023905
DOI: 10.1093/nar/gkab402
PMCID: PMC8262758

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