Skip to main content
. Author manuscript; available in PMC: 2023 Oct 27.
Published in final edited form as: Cell. 2022 Oct 27;185(22):4233–4248.e27. doi: 10.1016/j.cell.2022.09.028

Key resources table

REAGENT or RESOURCE SOURCE IDENTIFIER
Deposited data
Summary CNV-phenotype association statistics This paper 10.5281/zenodo.7034987 https://data.broadinstitute.org/lohlab/HI-CNV/sumstats
UK Biobank Bycroft et al. 2018 Nature http://www.ukbiobank.ac.uk/
PennCNV calls within UK Biobank participants Crawford et al. 2019 J. Med. Genet. UK Biobank Return 1701
BioBank Japan Nagai et al. 2017 J. Epidemiol. https://humandbs.biosciencedbc.jp/en/hum0014-v26
SNP/indel pLoF gene burden summary statistics Backman et al. 2021 Nature https://www.ebi.ac.uk/gwas/publications/34662886
Software and algorithms
HI-CNV This paper 10.5281/zenodo.7034987 https://data.broadinstitute.org/lohlab/HI-CNV/
BOLT-LMM Loh et al. 2015 Nature Genetics; Loh et al. 2018 Nature Genetics https://data.broadinstitute.org/alkesgroup/BOLT-LMM/
plink Chang et al. 2015 GigaScience https://www.cog-genomics.org/plink/
CNVnator Abyzov et al. 2011 Genome Research https://github.com/abyzovlab/CNVnator
DELLY Rausch et al. 2012 Bioinformatics https://github.com/dellytools/delly
R The R Foundation https://www.r-project.org
BEDTools Quinlan and Hall 2010 Bioinformatics https://github.com/arq5x/bedtools2/
Python Python Software Foundation https://www.python.org/