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Annotation Databases and Tools

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Across
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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
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Provides human variants and ethnic variation across a 1000 Genomes
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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
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A free database of reports of the relationship between CLINical VARiants and conditions funded by the NIH
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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
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An NIH funded project to build a central resource that defines the CLINical relevance of GENes and variants
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NCBI's database of REFerence SEQuences to use for alignment and variant calling
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A tool from ENSEMBLe to do Variant Effect Prediction for genes, transcripts, and protein sequence, as well as regulatory regions
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NCBI's database of SNPs
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A Catalog Of Somatic Mutations In Cancer curated by the Sanger Institute
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A curated Database of human Genomic structural Variation
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The Exome Aggregation Coalition which is seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects