Publications by authors named "Gary P Leggatt"
Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have not been systematically assessed due to limitations around mapping short-read sequencing data.
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- * TKD are monogenic disorders leading to kidney damage but exhibit highly variable symptoms and onset of kidney failure, even among individuals with the same genetic mutation.
- * The review highlights the expanding list of genes linked to TKD, differences in patient presentations, and the potential influence of modifier genes on the transition from rare monogenic to more common forms of chronic kidney disease (non-proteinuric CKD).