Article
The AnnotSV webserver in 2023: updated visualization and ranking.
Nucleic acids research - 5 Jul 2023
Geoffroy Véronique, Lamouche Jean-Baptiste, Guignard Thomas, Nicaise Samuel, Kress Arnaud, Scheidecker Sophie, Le Béchec Antony, Muller Jean
Abstract excerpt
Much of the human genetics variant repertoire is composed of single nucleotide variants (SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of our modified DNA. SV detection has often been a complex question to answer either because of the necessity to use different technologies (array CGH, SNP array, Karyotype, Optical Genome Mapping…) to detect each category of SV or to...
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