v.0.2.0
Intro
In this releaase custom VCEP rules from ClinGen were implemented and integrated into AutoACMG algorithm. Some additional minor fixes and features were also included.
What's Changed
- Add vcr.py for end-to-end tests by @gromdimon in #158
- Refactor codebase for better internal data structure by @gromdimon in #159
- Update .gitattributes by removing \ by @gromdimon in #165
- Increase test coverage by @gromdimon in #162
- Fix readme by @gromdimon in #166
- 161 add detailed description on dev quickstart by @gromdimon in #167
- Implement some VCEPs for PM1 criterion by @gromdimon in #169
- Implement pm1 vcep rules by @gromdimon in #171
- Implement
BP7
VCEP rules by @gromdimon in #173 - PM4 and BP3 rules for VCEPs by @gromdimon in #177
- Implement PP2 and BP1 VCEP rules by @gromdimon in #182
- Add VCEP specifications by @gromdimon in #184
- Implement pm2, ba1, bs1 rules by @gromdimon in #186
- Implement custom
Not applicable
VCEP rules for PVS1 by @gromdimon in #187 - Implement full gene deletion method by @gromdimon in #188
- Implement del_disrupt_rf method by @gromdimon in #189
- Implemente undergo_nmd method by @gromdimon in #190
- Implement "In biologically relevant transcript" method for strucvars by @gromdimon in #191
- Implement VCEPs for
PS1
andPM5
by @gromdimon in #192 - Implement custom
PP3
andBP4
rules by @gromdimon in #196 - Add VCEP Documentation by @gromdimon in #199
- Implement crit4prot function for stucvars by @gromdimon in #201
- Implement lof is frequent in population for strucvars by @gromdimon in #202
- Implement lof removes more than 10% of protein for strucvars by @gromdimon in #203
- Implement duplication - tandem setting to temporary fix the PVS1 criteria for duplication CNVs by @gromdimon in #205
- Add misZ score evaluation for PP2 and BP1 by @gromdimon in #207
- Rename
Notmet
andMet
prediction statuses by @gromdimon in #208 - Optimize tests by @gromdimon in #209
- Fix failing tests in PM2 by @gromdimon in #210
- Update documentation by @gromdimon in #214
Full Changelog: v.0.1.0...v.0.2.0