| 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
|