Section: New Software and Platforms

SVJedi

Keywords: High throughput sequencing - Structural Variation - Genome analysis

Functional Description: SVJedi is a structural variation (SV) genotyper for long read data. Based on a representation of the different alleles, it estimates the genotype of each variant in a given individual sample based on allele-specific alignment counts. SVJedi takes as input a variant file (VCF), a reference genome (fasta) and a long read file (fasta/fastq) and outputs the initial variant file with an additional column containing genotyping information (VCF).

• Participants: Claire Lemaitre, Lolita Lecompte, Pierre Peterlongo and Dominique Lavenier

• Contact: Claire Lemaitre

• URL: https://github.com/llecompte/SVJedi