figshare
Browse
13073_2015_221_MOESM2_ESM.pdf (210.1 kB)

Additional file 2: Figure S2. of A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Download (210.1 kB)
journal contribution
posted on 2015-09-30, 05:00 authored by Neil Miller, Emily Farrow, Margaret Gibson, Laurel Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter, Josh Petrikin, Carol Saunders, Isabelle Thiffault, Sarah Soden, Laurie Smith, Darrell Dinwiddie, Suzanne Herd, Julie Cakici, Severine Catreux, Mike Ruehle, Stephen Kingsmore
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)

Funding

Children’s Mercy Hospital

History