quinlan-lab pathoscore issues

quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.

MIT License

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issues

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updated date, fix to filter out SSR variants (suspected false positives)

#20 jimhavrilla closed 7 years ago
3
fixes to gerp score build

#19 jimhavrilla closed 7 years ago
1
Homsy et al and ClinVar fix

#18 jimhavrilla closed 7 years ago
1
check total counts

#17 brentp closed 7 years ago
0
eichler de novo truth set and formulae

#16 jimhavrilla closed 7 years ago
2
Eichler de novos

#15 jimhavrilla closed 7 years ago
3
evaluate: allow matching on allele frequency

#14 brentp closed 6 years ago
2
fix ad-genes

#13 jimhavrilla closed 7 years ago
0
add homsy et al data

#12 ryanlayer closed 7 years ago
0
de novos from Eichler

#11 brentp closed 7 years ago
0
allow scoring missense only

#10 brentp closed 7 years ago
2
code and documentation for AD gene set; complement of ad gene set in …

#9 jimhavrilla closed 7 years ago
6
code and documentation for AD gene set

#8 jimhavrilla closed 7 years ago
11
code and documentation for AD gene set

#7 jimhavrilla closed 7 years ago
3
Add Wellderly cohort

#6 ryanlayer closed 7 years ago
0
measure and plot of most constrained variants

#5 brentp closed 7 years ago
1
Script to make gnomad benign truth set (filtered on ExAC) and filter out variants on AA change

#4 jimhavrilla closed 6 years ago
5
add clinvar pathogenics and clinvar benign vcfs to truth/

#3 brentp closed 7 years ago
0
add precision-recall curve to output

#2 brentp closed 7 years ago
0
better options for missing scores

#1 brentp closed 7 years ago
2