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. Author manuscript; available in PMC: 2023 Dec 18.
Published in final edited form as: Cell. 2022 Nov 10;185(23):4409–4427.e18. doi: 10.1016/j.cell.2022.10.009

Key resources table.

REAGENT or RESOURCE SOURCE IDENTIFIER
Deposited data
MSSNG This paper https://research.mss.ng/
Simons Simplex Collection SFARI https://www.sfari.org/resource/sfari-base/
SPARK SFARI https://www.sfari.org/resource/sfari-base/
1000 Genomes Project 1000 Genomes Project Consortium https://www.internationalgenome.org/
Human Reference Genome Build 38 (GRCh38) Genome Reference Consortium https://www.ncbi.nlm.nih.gov/grc/human
Genome aggregation database (gnomAD) Broad Institute https://gnomad.broadinstitute.org/
dbNSFP Liu et al.125 https://sites.google.com/site/jpopgen/dbNSFP
ASC variant-level data Autism Sequencing Consortium https://asc.broadinstitute.org
Ensembl Regulatory Build Ensembl http://useast.ensembl.org/info/genome/funcgen/regulatory_build.html
GeneHancer Fishilevich et al.108 https://genome.ucsc.edu/
ReMap2020 Chèneby et al.109 http://remap.univ-amu.fr
LNCipedia Volders et al.110 https://lncipedia.org
DASHR Kuksa et al.111 https://dashr2.lisanwanglab.org
dbRIP Wang et al.112 https://dbrip.brocku.ca
Software and algorithms
Sentieon Kendig et al.80 https://www.sentieon.com/products/
DeNovoGear Ramu et al.85 https://github.com/ultimatesource/denovogear
ADMIXTURE Alexander et al.86 https://dalexander.github.io/admixture/publications.html
Genomic ancestry inference with deep learning Google https://cloud.google.com/blog/products/gcp/genomic-ancestry-inference-with-deep-learning
BWA Li and Durbin81 http://bio-bwa.sourceforge.net/
SAMtools Li et al.118 http://www.htslib.org/
HaploGrep Weissensteiner et al.119 https://haplogrep.i-med.ac.at/
MitoMaster Lott et al.120 https://www.mitomap.org/foswiki/bin/view/MITOMASTER/WebHome
ERDS Zhu et al.88 https://github.com/igm-team/ERDS
CNVnator Abyzov et al.89 https://github.com/abyzovlab/CNVnator
DELLY Rausch et al.91 https://github.com/dellytools/delly
Manta Chen et al.94 https://github.com/Illumina/manta
ANNOVAR Wang et al.84 https://annovar.openbioinformatics.org/en/latest/
Variant Effect Predictor (VEP) McLaren et al.106 https://useast.ensembl.org/info/docs/tools/vep/index.html
TADA He et al.24 http://www.compgen.pitt.edu/TADA/TADA_guide.html
TADA+ Satterstrom et al.8 Personal communication
PLINK Purcell et al.105 https://zzz.bwh.harvard.edu/plink/
GeneMANIA Warde-Farley et al.126 https://genemania.org/
Custom scripts This paper 10.5281/zenodo.7086706