KEY RESOURCES TABLE
| REAGENT or RESOURCE | SOURCE | IDENTIFIER |
|---|---|---|
| Deposited Data | ||
| Whole exome sequencing data of 52 VOGM trios and 3 singletons | This paper | Accession no. phs000744.v4.p2 http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 |
| Whole exome sequencing data of 1,789 control trios from the Simon Simplex Collection | Iossifov et al., 2014 | NDAR: DOI:10.15154/1149697 https://ndar.nih.gov/study.html?id=352 |
| Software and Algorithms | ||
| Genome Analysis Tool Kit (GATK) | DePristo et al., 2011; McKenna et al., 2010; Van der Auwera et al., 2013 |
https://software.broadinstitute.org/gatk/best-practices/
|
| BWA-mem | Li and Durbin, 2009 |
http://bio-bwa.sourceforge.net/
|
| Annovar | Wang et al., 2010 |
http://annovar.openbioinformatics.org/en/latest/
|
| PLINK/SEQ | Fromer et al., 2014 |
https://atgu.mgh.harvard.edu/plinkseq/
|
| Antibodies | ||
| Anti-HA-Tag antibody | Cell Signaling Technology, Danvers, MA, USA | AB_10691311 |
| Other | ||
| 1000 Genomes GRCh37 h19 genome build | 1000 Genomes Project |
http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/human_g1k_v37.fasta.gz
|
| RefSeq hg19 gene annotation | UCSC Genome Browser |
http://genome.ucsc.edu/cgi-bin/hgTables?command=start
|
| Intervals file for IDT xGen v1.0 | Integrated DNA Technologies |
https://www.idtdna.com/pages/products/next-generation-sequencing/hybridization-capture/lockdown-panels/xgen-exome-research-panel
|
| ExAC Browser (Beta) | Exome Aggregation Consortium | http://exac.broadinstitute.org/ |
| gnomAD Browser | genome Aggregation Database | http://gnomad-old.broadinstitute.org/ |