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paper.bib
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@article{vcf,
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@article{lollipops,
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@misc{bed,
author = {{Niu}, J. and {Denisko}, D. and {Hoffman}, M.~M.},
title = "{The Browser Extensible Data (BED) Format}",
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month = jan,
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@article{gnomad,
author = {{Karczewski}, K.~J. and {Francioli}, L.~C. and {Tiao}, G. and {Cummings}, B.~B. and {Alföldi}, J. and {Wang}, Q. and {Collins}, R.~L. and {Laricchia}, K.~M. and {Ganna}, A. and {Birnbaum}, D.~P. and {Gauthier}, L.~D. and {Brand}, H. and {Solomonson}, M. and {Watts}, N.~A. and {Rhodes}, D. and {Singer-Berk}, M. and {England}, E.~M. and {Seaby}, E.~G. and {Kosmicki}, J.~A. and {Walters}, R.~K. and {Tashman}, K. and {Farjoun}, Y. and {Banks}, E. and {Poterba}, T. and {Wang}, A. and {Seed}, C. and {Whiffin}, N. and {Chong}, J.~X. and {Samocha}, K.~E. and {Pierce-Hoffman}, E. and {Zappala}, Z. and {O'Donnell-Luria}, A.~H. and {Minikel}, E.~V. and {Weisburd}, B. and {Lek}, M. and {Ware}, J.~S. and {Vittal}, C. and {Armean}, I.~M. and {Bergelson}, L. and {Cibulskis}, K. and {Connolly}, K.~M. and {Covarrubias}, M. and {Donnelly}, S. and {Ferriera}, S. and {Gabriel}, S. and {Gentry}, J. and {Gupta}, N. and {Jeandet}, T. and {Kaplan}, D. and {Llanwarne}, C. and {Munshi}, R. and {Novod}, S. and {Petrillo}, N. and {Roazen}, D. and {Ruano-Rubio}, V. and {Saltzman}, A. and {Schleicher}, M. and {Soto}, J. and {Tibbetts}, K. and {Tolonen}, C. and {Wade}, G. and {Talkowski}, M.~E. and {Genome Aggregation Database Consortium} and {Neale}, B.~M. and {Daly}, M.~J. and {MacArthur}, D.~G.},
title = "{Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans}",
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volume = 590,
doi = {10.1038/s41586-020-03174-8},
url = {https://www.nature.com/articles/s41586-020-03174-8},
}
@article{ucscgenome,
author = {{Kuhn}, R.~M. and {Haussler}, D. and {Kent}, W.~J.},
title = "{The UCSC genome browser and associated tools}",
journal = {Briefings in Bioinformatics},
year = 2013,
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url = {https://pubmed.ncbi.nlm.nih.gov/22908213/},
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@article{vep,
author = {{McLaren}, W. and {Gil}, L. and {Hunt}, S.~E. and {Riat}, H.~S. and {Ritchie}, G.~R.~S. and {Thormann}, A. and {Flicek}, P. and {Cunningham}, F.},
title = "{The Ensembl Variant Effect Predictor}",
journal = {Genome Biology},
year = 2016,
month = jun,
volume = 17,
doi = {10.1186/s13059-016-0974-4},
url = {https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0974-4},
}
@article{igv,
author = {{Thorvaldsdóttir}, H. and {Robinson}, J.~T. and {Mesirov}, J.~P.},
title = "{Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration}",
journal = {Briefings in Bioinformatics},
year = 2013,
month = mar,
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url = {https://pubmed.ncbi.nlm.nih.gov/22517427/},
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@misc{tolcb,
author = {{Tol}, P.},
title = "{Introduction to Colour Schemes}",
year = 2021,
month = aug,
howpublished = {\url{https://personal.sron.nl/~pault/}},
note = {Accessed: 2023-06-12},
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@article{wongcb,
author = {{Wong}, B.},
title = "{Points of view: Color blindness}",
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}