Table 3.

Exome and/or Genome Sequencing Toolkit

Sequence Databases	NCBI Genome Data Viewer	https://www.ncbi.nlm.nih.gov/genome/gdv/
	UCSC Genome Browser	https://genome.ucsc.edu/
	MITOMAP	https://www.mitomap.org/MITOMAP
Population Databases	Exome Aggregation Consortium (ExAC)	http://exac.broadinstitute.org/
	Genome Aggregation Database (gnomAD)	http://gnomad.broadinstitute.org/
Computational Models/ in silico prediction	Transcript inferred Pathogenicity Score (TraP)	http://trap-score.org
	Mendelian Clinically Applicable Pathogenicity (M-CAP) Score	http://bejerano.stanford.edu/mcap/
	MutationTaster	http://www.mutationtaster.org/
	Human Splicing Finder	http://www.umd.be/HSF3/
	NNsplice	http://www.fruitfly.org/seq_tools/splice.html
Variant and Disease Databases	OMIM	https://www.omim.org/
	ClinVar	http://www.ncbi.nlm.nih.gov/clinvar/
	Human Gene Mutation Database	http://www.hgmd.cf.ac.uk/ac/index.php
	Leiden Open Variation Database	http://www.lovd.nl/3.0/home
	DECIPHER	https://decipher.sanger.ac.uk/
	Database of Genomic Variants	http://dgv.tcag.ca/dgv/app/home
Literature Databases	PubMed	http://www.ncbi.nlm.nih.gov/pubmed
	Mastermind Genomic Search Engine	https://www.genomenon.com/mastermind
	Google Scholar	https://scholar.google.com
ClinGen Tools	Structural Variation Database Search	http://dbsearch.clinicalgenome.org/search/
	Dosage Sensitivity Map	https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/
Genomics Data Visualizer	Integrative Genomics Viewer	http://www.broadinstitute.org/igv
Variant Data Aggregator	Varsome	https://varsome.com
Case Matching	Matchmaker Exchange	http://www.matchmakerexchange.org
	GenomeConnect	https://www.genomeconnect.org
Model Organisms	Alliance of Genome Resources	https://www.alliancegenome.org
Standardized Phenotype Terms	Human Phenotype Ontology	https://hpo.jax.org/app/
Lab-specific Sequencing Coverage by Gene	Baylor Genetics Exome Coverage	https://www.bcm.edu/research/medical-genetics-labs/exome.cfm