REAGENT or RESOURCE	SOURCE	IDENTIFIER
Deposited data
1000 Genomes Project	The 1000 Genomes Project Consortium	ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/
ClinVar database	ClinVar	https://www.ncbi.nlm.nih.gov/clinvar/
Gene2Phenotype	Thormann et al.35	https://www.ebi.ac.uk/gene2phenotype/
Genome Aggregation Database (gnomAD)	Karczewski et al.20	https://gnomad.broadinstitute.org/
Genotype-Tissue Expression (GTEx) portal	GTEx Consortium	https://gtexportal.org/home/
Greater Middle East Variome (GME) project	Scott et al.21	http://igm.ucsd.edu/gme/
Human Heredity and Health in Africa (H3Africa) project	H3Africa Consortium	https://h3africa.org/
Online Mendelian Inheritance in Man (OMIM)	OMIM	https://omim.org/
Reich Laboratory Dataset	Reich Laboratory	https://reich.hms.harvard.edu/datasets
Simons Foundation Autism Research Initiative (SFARI) Gene database	Basu et al.29	https://www.sfari.org/resource/sfari- gene/
The Encyclopedia of DNA Elements (ENCODE)	ENCODE Project	https://www.encodeproject.org/
Software and algorithms
ADMIXTURE	Alexander et al.93	https://dalexander.github.io/admixture/d ownload.html
ANNOVAR	Wang et al.94	https://annovar.openbioinformatics.org/e n/latest/user-guide/download/
Burrows-Wheeler Aligner (BWA)	Li and Durbin95	https://github.com/lh3/bwa
CNVkit	Talevich et al.28	https://github.com/etal/cnvkit
Genome Analysis Toolkit (GATK)	Van der Auwera et al.96	https://software.broadinstitute.org/gatk/
GISTIC2.0	Mermel et al.30	https://github.com/broadinstitute/gistic2
LAMP-LD	Baran et al.97	https://bogdan.dgsom.ucla.edu/pages/la mp/
Picard	Broad Institute of MIT and Harvard	https://broadinstitute.github.io/picard/
PLINK	Purcell et al.98	http://www.cog-genomics.org/plink2/
regioneR	Gel et al.99	https://www.bioconductor.org/packages/release/bioc/html/regioneR.html
Samtools	Danecek et al.100	http://www.htslib.org/download/
UCSC Genome Browser	Kent et al.101	http://genome.ucsc.edu
Vcftools	Danecek et al.102	https://vcftools.sourceforge.net/