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

ABSTRACT: 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 challenging. To help identifying human pathogenic SV, we have developed a web server dedicated to their annotation and ranking (AnnotSV) as well as their visualization and interpretation (knotAnnotSV) freely available at the following address: https://www.lbgi.fr/AnnotSV/. A large amount of annotations from >20 sources is integrated in our web server including among others genes, haploinsuffi

SUBMITTER: Geoffroy V 

PROVIDER: S-EPMC8262758 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature