[HTML][HTML] Genetic testing of movements disorders: A review of clinical utility
Currently, pathogenic variants in more than 500 different genes are known to cause various
movement disorders. The increasing accessibility and reducing cost of genetic testing has …
movement disorders. The increasing accessibility and reducing cost of genetic testing has …
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery
Tandem repeat DNA sequences constitute a significant proportion of the human genome.
While previously considered to be functionally inert, these sequences are now broadly …
While previously considered to be functionally inert, these sequences are now broadly …
Optical genome mapping for applications in repeat expansion disorders
B van der Sanden, K Neveling, AWC Pang… - Current …, 2024 - Wiley Online Library
Short tandem repeat (STR) expansions are associated with more than 60 genetic disorders.
The size and stability of these expansions correlate with the severity and age of onset of the …
The size and stability of these expansions correlate with the severity and age of onset of the …
Optical genome mapping enables accurate repeat expansion testing
B van der Sanden, K Neveling, S Shukor… - bioRxiv, 2024 - biorxiv.org
Short tandem repeats (STRs) are amongst the most abundant class of variations in human
genomes and are meiotically and mitotically unstable which leads to expansions and …
genomes and are meiotically and mitotically unstable which leads to expansions and …