abrusell

Pinned Repositories

Annotation-pipeline
pipeline di annotazione hg19
00
clinical_genomics
Data analysis and interpretation for clinical genomics” using Galaxy
Language:CSS00
hello-world
primo progetto github
0 1 00
InterVar
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Language:Python00
Tartagenia
Pipeline di chiamata, annotazione e prioritizzazione delle varianti
Language:Shell14
GREEN-VARAN
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
Language:R18 4 186
Exomiser
A Tool to Annotate and Prioritize Exome Variants
Language:Java201 24 50655
AnnotSV
Annotation and Ranking of Structural Variation
Language:Tcl215 11 25434
AutoMap
Tool to find regions of homozygosity (ROHs) from sequencing data.
Language:Shell28 2 259
samplot
Plot structural variant signals from many BAMs and CRAMs
Language:Python525 12 11567

abrusell's Repositories

abrusell/Tartagenia
Pipeline di chiamata, annotazione e prioritizzazione delle varianti
Language:Shell14
abrusell/Annotation-pipeline
pipeline di annotazione hg19
00
abrusell/clinical_genomics
Data analysis and interpretation for clinical genomics” using Galaxy
Language:CSS00
abrusell/hello-world
primo progetto github
0 1 00
abrusell/InterVar
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Language:Python00