Whole Genome Sequencing (WGS) allows for the analysis of the whole genome ... These mutations could lead either to an exon being skipped or a pseudoexon (an exon starting at an alternative place and ...

The COVID-19 pandemic has had a detrimental impact on global health. The momentous effort of researchers around the globe ...

followed by sequencing of overlapping amplicons within the regions of interest using Illumina sequencing chemistry. Each coding exon plus ~50bp of flanking intronic sequence are simultaneously ...

It no longer needs a specific DNA sequence to latch onto ... We were able to show that not only could it skip the whole exon ...

Subsequent whole genome sequencing identified two MICOS10 gene variants: a deletion in big exon 1 and a single nucleotide missense mutation that most likely accounted for the patient's symptoms.