| Autor: |
Miller, Neil, Farrow, Emily, Gibson, Margaret, Willig, Laurel, Twist, Greyson, Byunggil Yoo, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh, Saunders, Carol, Thiffault, Isabelle, Soden, Sarah, Smith, Laurie, Dinwiddie, Darrell, Herd, Suzanne, Cakici, Julie, Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen |
| Rok vydání: |
2015 |
| DOI: |
10.6084/m9.figshare.c.3639146_d5.v1 |
| Popis: |
A screen-shot of the warehouse annotation and curation data for a genomic variant. Right clicking a variant row in VIKING opens a menu that includes a link-out to the CMH Variant Warehouse, which contains automated annotation data from RUNES (ACMG-type variant category, CM-KC allele frequency, homozygous and heterozygous status in other samples, BLOSUM score, SIFT score, and PolyPhen2 score), Entrez Gene, HGMD, ClinVar, COSMIC, and manual curation data for that variant (if available). Highlighted values represent hyperlinks to additional information. (PDF 210 kb) |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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