ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Table 1 Variation annotation resources in ClinLabGeneticist

Variant database	Description	Reference
dbSNP	NCBI genetic variant database	[9]
1000 Genome	1000 genome sequencing project	[35]
ESP6500	Exome sequencing project by NHLBI	[36]
UK10K control	WGS cohorts of 4,000 people in UK	[37]
Scripps Wellderly	Sequencing of 2,000 healthy elderly volunteers	[38]
ExAC	Exome aggregation consortium	[39]
dbNSFP	Functional prediction and annotation of non-synonymous SNVs	[40]
HGMD	Human gene mutation database	[12]
ClinVar	Relationship between variants and human disease phenotype	[10]
OMIM	Online Mendelian Inheritance in Man	[11]
UK10K disease	WES of 6,000 patients with neurodevelopment, obesity, and rare diseases in UK	[37, 41]
GERA	Genotyping data of 78,000 individuals with common age-related diseases	[42–44]
Mount Sinai Biobank	Genotyping data from Biobank at Mount Sinai	[24, 25]
VarDi	In-house disease variants database	[25]

ISSN: 1756-994X