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8 changes: 8 additions & 0 deletions CONTRIBUTORS.yaml
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Expand Up @@ -148,6 +148,10 @@ afgane:
name: Enis Afgan
joined: 2018-06

afrubin:
name: Alan Rubin
joined: 2026-05

aisanjiangw:
name: Aisanjiang Wubuli
joined: 2017-09
Expand Down Expand Up @@ -3151,6 +3155,10 @@ NickSto:
twitter: NickStoler
joined: 2018-07

nickzoic:
name: Nick Moore
joined: 2026-05

njall:
name: Niall Beard
joined: 2019-02
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---
destination:
type: library
name: GTN - Material
description: Galaxy Training Network Material
synopsis: Galaxy Training Network Material. See https://training.galaxyproject.org
items:
- name: Variant Analysis
description: Materials for variant analysis tutorials
items:
- name: Calculating CHEK2 variant effect scores from MAVE data with CountESS
items:
- name: 'DOI: 10.5281/zenodo.20250971'
description: latest
items:
- url: https://zenodo.org/records/20250971/files/chek2_frequency_summary.csv
src: url
ext: csv
info: https://doi.org/10.5281/zenodo.20250971
- url: https://zenodo.org/records/20250971/files/chek2_rcs_countess.ini
src: url
ext: txt
info: https://doi.org/10.5281/zenodo.20250971
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@article{McCarthyLeo2024,
title = {Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2},
author = {McCarthy-Leo, Claire E. and Brush, George S. and Pique-Regi, Roger and Luca, Francesca and Tainsky, Michael A. and Finley, Russell L.},
year = {2024},
month = aug,
journal = {PLOS Genetics},
volume = {20},
number = {8},
pages = {e1011375},
doi = {10.1371/journal.pgen.1011375},
url = {https://doi.org/10.1371/journal.pgen.1011375}
}

@online{MaveDBCHEK2,
title = {Rad53 complementation scores for coding SNVs of human CHEK2},
author = {{MaveDB}},
url = {https://mavedb.org/score-sets/urn:mavedb:00001203-a-2},
urldate = {2026-05-17}
}
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