Sequence Confirmation and Recombination Evidence of a Human PAR1 Length Polymorphism. PAR1 Length Polymorphism

Here we PacBio sequenced amplicons to confirm the breakpoint and show evidence of recombination for a human pseudoautosomal region 1 (PAR1) length polymorphism. Amplicon primers and patient phenotypes are in the manuscript's supplemental data. The native sequence files also include a Y-specific amplicon per sample targeting hg19 chrY:2655472-2659817. All primers include barcodes and padding sequence using PacBio's initial 48 barcode design. Barcode-Sample relations are: 1-B1, 2-P1 , 3-F1, 4-P4, 5-F4, 6-P2, 7-F2, 8-P5, 9-F5, 10-P14, 11-C, 12-C, 13-P3, 14-F3, 15-P6, 16-F6, 17-P15, 18-P7 , 19-P8, 20-P9 , 21-P10, 22-P11 , 23-P12, 24-P13. P=patient, F=father, B=brother, C=control, and the number indicates which family.