Additional file 1 of Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making
Additional file 1. An excel spreadsheet containing four tabs with Supplemental Tables S1-S4. Table S1. provides a list of the 74 gene-disease pairs included on all commercial panels with ASQM criteria scores, total score, and designated category for each gene-disease pair. Table S2. lists 88 additio...
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Zusammenfassung: | Additional file 1. An excel spreadsheet containing four tabs with Supplemental Tables S1-S4. Table S1. provides a list of the 74 gene-disease pairs included on all commercial panels with ASQM criteria scores, total score, and designated category for each gene-disease pair. Table S2. lists 88 additional gene-disease pairs that were scored for this manuscript following the publication by Milko et al. [19], including individual ASQM criteria scores, total score, and designated category for each gene-disease pair. Table S3. lists the 77 genes that appeared on one or more commercial laboratory NBS panels, but were designated by our group as ASQM Category 2 because they have childhood-onset but lower or no actionability. Table S4. includes 249 genes that were designated by our group as ASQM Category 1 due to childhood onset and high actionability, but were not listed on any of the four commercial lab NBS panels. |
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DOI: | 10.6084/m9.figshare.14337483 |