Additional file 2 of Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

Additional file 2. Containing a workbook with three sheets of supplementary tables, Table S4-S6. The first sheet, “LoFP_variants”, contains details on unique loss-of-function and known pathogenic variants in the explorative and validation cohorts. The second sheet, “False_negative_variants”, contains details on false negative variants across all unique variants found in the explorative and validation cohorts. The third sheet, “DNA_yield, contains details on DNA extraction yield from Guthrie cards for both cohorts. For all tables; ID is formed by a letter (corresponding to the column batch the patient is in) and a number (corresponding to the row batch the patient is in). For first and second sheet; HGVS, Human Genome Variation Society (variant nomenclature). VAF, variant allele frequency, alt, alternative variant allele number, X, total read depth for locus, and SB, strand bias, are given for whole genome sequencing (WGS), column batch sequencing and row batch sequencing data.