Fig. 1: Study design, proof of concept in positive cohort and overview of negative cohort. | Nature Communications

Fig. 1: Study design, proof of concept in positive cohort and overview of negative cohort.

From: Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases

Fig. 1

Shown are (a) the study design schema, along with the wet bench and bioinformatics workflows with the tools used. Information about the positive (N = 17) and negative (N = 51) samples are in Supplementary Fig. 1a and Supplementary Data 2. Samples used for optimization (N = 59) include two samples with SMN1 carrier status and 57 samples set with previously confirmed methylation profiles, as explained in the main text. b counts of CNVs and SVs for each method in each filtering step of the “funnel-down” approach. c aggregate methylation profile of SMA –heatmap of base methylation modification (%) within the SMN1 chr5:70239954-70249165 region (left panel) and IGV methylation view in SMN1 (right panel) for SMA positive (OXN-007, OXN-008, OXN-010, OXN-068, OXN-069), SMA carrier (OXN-070, OXN-071) and SMA negative samples (OXN-012, OXN-021). d the gender and demography and (e) the most prevalent primary clinical symptom in the “Negative Cohort”. Source data are provided as a Source Data file.

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