Additional file 3: Figure S3. of A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
- Neil Miller (3562220)
- Emily Farrow (3562250)
- Margaret Gibson (183218)
- Laurel Willig (3562253)
- Greyson Twist (3562238)
- Byunggil Yoo (817802)
- Tyler Marrs (3562241)
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- Laurie Smith (3515405)
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- Stephen Kingsmore (208246)
DOIAbstract
A screen-shot of VIKING showing variants identified by DRAGEN in WGS26 of sample UDT_103, a patient with a molecular diagnosis of familial hemophagocytic lymphohistiocytosis type 3. Variants are displayed as rows in the right hand panel. The variant attributes are displayed by columns in the right hand panel. The bottom left panel permits selection of the variant attributes to be displayed. The following filters have been applied to the UDT_103 variant set (top left panel): Filtering to retain variants of ACMG-type categories 1–3, with an allele frequency in the CM-KC database of <0.1 %, that fit a recessive inheritance pattern (hemizygous, homozygous or compound heterozygous), and limited to OMIM genes. Twenty-six variants meet these filte...
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