2.3 Genome sequencing
GS was performed by Berry Genomics (Beijing, China). The DNA of the
affected families was isolated from peripheral blood using the QIAamp
DNA Mini Kit (QIAGEN, Hilden, Germany). Library preparation was
performed using TruSeq DNA PCR-Free Library Prep Kit (Illumina, San
Diego, CA, USA) following the manufacturer’s protocol. The prepared
libraries were sequenced on a NovaSeq 6000 (Illumina) to generate 150bp
paired end reads. The average depth was approximately 40X.