PathoSV estimates Structural Variant (SV) pathogenicity using a 'truncated ratio' that quantifies predicted gene transcription disruption in a specific tissue relative to its TPM. Input SV coordinates and tissue; PathoSV outputs the ratio (flagging > 0.25 as potentially pathogenic), SV population frequency, affected gene annotations (OMIM, GO), and offers deepseek interpretation for relating SV impact to a specified disease.
SV Background AF Annotation
Background SV AF set
gnomAD ALL, gnomAD EAS, 1KGP CHB+CHS , GTEx cohorts
Genome region annotation
GENCODE gtf
Known pathogenic
genes and inheritance
OMIM
Transcriptome annotation
55 tissue RNA-seq