Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data

Talk presented by Haojing Shao at AGTA201

Additional file 1 of npInv: accurate detection and genotyping of inversions using long read sub-alignment

Supplementary Figure. Figure S1. Error rates distribution around a wrong mapping homozygous inversion region. Figure S2. Evaluation of BWA-MEM [1], Minimap2 [2] and NGMLR [3] using npInv with short NHEJ inversions. Figure S3. Error rates distribution of 5 aligners. Figure S4. The performance of genotyping inversion from simulated and real data. Figure S5. PCR products validating three inversions (4q35.2, 3q21.3 and 10q11.22). Figure S6. IGV [7] view for left breakpoint on inversion 4q35.2. Supplementary Information. Algorithm 1. Program pseudocode. Supplementary Table. Table S1. PCR primers for validation. Table S2. NA12878 inversion combined from npInv, Validated [6] (Val), Assembly [8] (Asse) and Delly [9]. (PDF 325 kb