WES of carrier 5
Whole genome libraries were prepared from 100 ng of DNA using the Twist Library Preparation EF Kit (Twist Bioscience, Cat# 101058) and purified with AMPure XP beads (Beckman Coulter, Cat# A63882). Libraries were PCR-enriched (7 cycles) and subjected to exome capture using the Twist Comprehensive Exome Kit (Twist Bioscience, Cat# 102033). Captured libraries were enriched by PCR (8 cycles) and assessed for fragment size using the Agilent TapeStation (Agilent, Cat# 5067-5582) or Fragment Analyzer (Agilent, Cat# 5191-6576). Prepared libraries were quantified using Qubit HS Assay (Invitrogen, Cat# Q32854), diluted and pooled libraries were loaded onto the Illumina NovaSeqX plus instrument to generate 100X, 150bp Paired end reads per sample.