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Annotation Databases and Tools

Across
Online Mendelian Inheritance in Man which is a database authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Provides human variants and ethnic variation across a 1000 Genomes
This is a program from the Craig Center Institute predicts whether an amino acid substitution affects protein function. In other words, it Sorts Intolerant From Tolerate changes
A free database of reports of the relationship between CLINical VARiants and conditions funded by the NIH
A tool from harvard which predicts possible impacts of an amino acid substitution on the structure and function of a human protein. They predict what POLYmorphisms affect PHENotypes.
Down
An NIH funded project to build a central resource that defines the CLINical relevance of GENes and variants
NCBI's database of REFerence SEQuences to use for alignment and variant calling
A tool from ENSEMBLe to do Variant Effect Prediction for genes, transcripts, and protein sequence, as well as regulatory regions
NCBI's database of SNPs
A Catalog Of Somatic Mutations In Cancer curated by the Sanger Institute
A curated Database of human Genomic structural Variation
The Exome Aggregation Coalition which is seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects