Nature

Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data

Genomic variants causing abnormal splicing play important roles in genetic disorders and cancer development. Among them, variants that cause the formation of novel splice-sites (splice-site creating ...
Nature

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity

Of the ten likely causal variants found in SCLT1, four were missense (c.1631A>G p.(Lys544Arg); c.439G>T p.(Ala147Ser); c.671T>G p.(Leu224Arg); c.1706G>A p.(Ser569Asn)), two were single amino acid ...