Additional file 1: of Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Table S1. Characteristics of four embryos after in vitro fertilization. The four embryos were scored according to the Istanbul consensus. Embryo No.1 was transplanted. Figure S1. Sanger sequencing on the blood samples (left panel) and sperm samples (right panel) of the father, to determine whether germline mosaicism on c.326G > A is present. However, the results were inconclusive, and indeed a small peak of A allele and an even smaller peak for C allele is present at the c.326 position. Figure S2. Image of type-B ultrasonic of liver on the newborn baby. B-ultrasonogram showed that the liver and kidneys were normal. SP: Spleen; LK: Left kidney. (DOCX 372 kb)