zoonomia constraint scores

[priyambial123]

zoonomia constraint scores

[priyambial123]

Okay, I didn't look at the data as the file size was big and assumed that constraint scores or Phylo P scores were given for genes. If the constraint score was given for each base substitution, it won't provide much information for SV annotation. you are right. Thank you

[lgmgeo]

Hi @priyambial123,

Thanks for this new feature. Can you tell me more about the file with the annotations you want to add?
Direct url of the file to download / type of data (bed file ?) / ...

Best,
Véronique

[priyambial123]

https://cgl.gi.ucsc.edu/data/cactus/241-mammalian-2020v2-hub/Homo_sapiens/241-mammalian-2020v2.bigWig

This is the url given for PhyloP scores for Homo sapiens

[lgmgeo]

I'm not sure to understand your request:

• We have evolutionary constraint scores for each base substitution in the genome
• We have a SV to annotate with AnnotSV, e.g DUP chr1:6000000-7000000
  Which annotation would you like to add exactly? In which new output column?