Basecalling for resequencing chips
Custom resequencing chips are flexible, cost-effective tools for scanning targeted genomic sequence, in tens to hundreds of samples, for variation relative to a reference sequence. The reference might be the human mitochondrial genome, all exons of a collection of genes implicated in a disease, or from microbial pathogens. We are working with Dr Justin Rubio and Ms Ella Wilkins from the Howard Florey Institute, who have a custom resequencing chip with Parkinson’s disease genes, and Drs Curt Scharfe and Michael Mindrinos from the Stanford Gene Technology Center, who study inherited optic nerve degeneration genes in the same way. Our aim is to reduce the error rate, and improve the call rate for these chips.