A redeemed strategy for molecular autopsy in unexplained infant deaths

[...]a considerable number of cases could not get a definite etiological diagnosis of child death even after investigation. The library was constructed by capturing the target area independently developed by BGI Genomics Co., Ltd, with a quality control standard set at > 20 ng/µL. DNA nanoball libraries were generated by rolling circle amplification of circularized DNA libraries and sequenced on the MGISEQ-2000 sequencer platform (MGI) using a paired-end 100 bp plus 10 bp (index) strategy with an average depth of ≥ 180-fold. CES analysis identified compound pathogenic heterozygous variants in the GLB1 gene (c.1343 A > T and c.1063 C > T), linked to GM1 gangliosidosis/β-galactosidase deficiency 1.