| Deposited data |
|
| Published paper and data |
N/A |
Gennarino et al. (2018) |
|
| Software and algorithms |
|
| EvoTol |
http://www.evotol.co.uk/ |
Rackham et al. (2015) |
| RVIS |
http://genic-intolerance.org/ |
(Petrovski et al., 2013) |
| Evolutionary Action (EA) |
http://eaction.lichtargelab.org/ |
Katsonis and Lichtarge et al. (2014) |
| SpliceAI |
https://spliceailookup.broadinstitute.org/ |
(Jaganathan et al., 2019) |
| Strawberry Perl |
https://strawberryperl.com/
https://github.com/StrawberryPerl
|
N/A |
| ANNOVAR |
https://annovar.openbioinformatics.org/en/ |
Wang et al. (2010) |
| The R Project for Statistical Computing |
https://www.r-project.org/ |
N/A |
| RStudio |
https://www.rstudio.com/ |
N/A |
| EmEditor |
https://www.emeditor.com/ |
N/A |
| Notepad++ |
https://notepad-plus-plus.org/ |
N/A |
| 7-Zip |
https://www.7-zip.org/ |
N/A |
| dbNSFP v4.2a |
https://sites.google.com/site/jpopgen/dbNSFP |
(Liu et al., 2011, Liu et al., 2020) |
| GERP++ |
http://mendel.stanford.edu/SidowLab/downloads/gerp/ |
(Cooper et al., 2005, Davydov et al., 2010) |
| pcGERP |
N/A |
Petrovski et al. (2015) |
|
| Other |
|
| GeneMatcher |
https://genematcher.org/ |
Sobreira et al. (2015) |
| Decipher |
N/A |
N/A |
| gnomAD database |
https://gnomad.broadinstitute.org/ |
Karczewski et al. (2020) |
| ExAC database |
(merged with gnomAD) |
N/A |
| Mouse Genome Informatics (MGI) |
http://www.informatics.jax.org/ |
The Jackson Laboratory |
NHLBI Exome Sequencing Projec
Exome Variant Server (EVS) database – version 2 |
https://evs.gs.washington.edu/EVS/ |
N/A |
OMIM, Online Mendelian
Inheritance in MAN |
https://www.omim.org |
Amberger et al. (2015) |
| ClinVar |
https://www.ncbi.nlm.nih.gov/clinvar/ |
(Landrum et al., 2020) |
| DisGeNET (v5.0). |
http://www.disgenet.org/web/DisGeNET/menu;jsessionid=qqvf9r16hk99w6v7mzc4ikth |
Pinero et al. (2017) |
| nstd102 (Clinical Structural Variants) |
https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd102/ |
Kaminsky et al. (2011) |
