| Deposited Data |
| ASC-generated WES sequencing data |
This paper |
dbGaP Study Accession: phs000298.v4.p3 |
| SFARI-generated WES sequencing data |
SFARI |
https://www.sfari.org/resource/sfari-base/ |
| iPSYCH-generated WES sequencing data |
iPSYCH-Broad consortium |
http://ipsych.genome.au.dk/ |
| Human reference genome NCBI build 37, GRCh37 |
Genome Reference Consortium |
http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/human/ |
| Exome aggregation consortium (ExAC) |
Lek et al., 2016 |
http://exac.broadinstitute.org/ |
| Genome aggregation database (gnomAD) |
Karczewski et al., 2019 |
https://gnomad.broadinstitute.org/ |
| Deciphering Developmental Disorders (DDD) |
Deciphering Developmental Disorders Study, 2017 |
https://www.ddduk.org/ |
| Genotype-Tissue Expression (GTEx) resource |
Battle et al., 2017 |
https://gtexportal.org/home/ |
| BrainSpan |
Li et al., 2018 |
http://www.brainspan.org/ |
| Single-cell RNA-seq data from developing cortex |
Nowakowski et al., 2017 |
https://cells.ucsc.edu/?ds=cortex-dev |
| InWeb_IM (protein-protein interaction data) |
Li et al., 2017 |
http://www.lagelab.org/resources/ |
| Software and Algorithms |
| Genome Analysis Toolkit (GATK) |
Van der Auwera et al., 2013 |
https://software.broadinstitute.org/gatk/ |
| Hail |
https://hail.is/ |
https://github.com/hail-is/hail/ |
| Variant Effect Predictor (VEP) |
McLaren et al., 2016 |
http://grch37.ensembl.org/Homo_sapiens/Tools/VEP |
| TADA |
He et al., 2013 |
http://www.compgen.pitt.edu/TADA/TADA_guide.html |
| Gene Ontology (via Panther) |
Mi et al., 2019 |
http://www.pantherdb.org/ |
