… short tandem repeats (STRs) have been implicated as the causal variant in over 50 diseases
… However, running these tools out of the box only allows around half of the known disease-…

… STR loci helps to understand biology and disease and could contribute to the discovery of …
of diseases such as FXS and spinal-bulbar muscular atrophy, which are caused by mutations …

… ) gene gives rise to Kennedy's disease. We recently reported that mutations in the AR gene
can … Analysis of short tandem repeats Twelve short tandem repeats were amplified from 196 …

… more liable to mutation; this … of tandem repeats, particularly of short tandem repeats, can
cause a range of disorders (including Huntington disease, various ataxias, motor neuron disease…

… variations of short tandem repeats (STRs). Many genetic diseases are known to be caused
by expansions of STRs, especially neurological disorders, such as Huntington's disease. …

… in numerous short reads because known STRs associated with diseases are frequently …
We first identify ‘exact’ STRs with no mutations in each short read using an efficient O(n log n…

… Short tandem repeats (STRs) are implicated in dozens of human genetic diseases and …
with the number of mutations expected based on our estimated mutation rates by repeat number …

… We developed exSTRa (expanded short tandem repeat algorithm), a method that uses …
We assessed results by comparing the findings to known disease status. Performance was also …

… Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases.
To … The genetic etiologies of ALS and FTD are complex, with disease-linked mutations …

… of which cause neurodegenerative disease in humans. With … short tandem repeat variation
can be detected. We further note that to detect variation relevant to many repeat diseases, it is …