1st Plenary #ASHG20 session: Meredith Course identified a human-specific 69bp repeat expansion in the last exon of WDR7.
This repeat was associated with ALS (repeats in ALS cases are on average longer in ALS cases than controls). Longest repeat observed was 86bp. #ASHG20
This repeat was associated with ALS (repeats in ALS cases are on average longer in ALS cases than controls). Longest repeat observed was 86bp. #ASHG20
Observed periodicity in the WDR7 repeat and found that it expands in multiples of 2 in the 3' - 5' direction. #ASHG20
Initial analysis was done in a EUR cohort, so repeated the analysis in non-EUR cohorts, finding population specific repeats in Han Chinese descent and AFR ancestry #ASHG20
Found that the WDR7 repeat first appears in the great apes. Looking at ancient DNA, found the repeat was present in both Neanderthal and Denisovans.
The function of the repeat can form microRNAs
#ASHG20
The function of the repeat can form microRNAs
#ASHG20
The analyses presented during this absolutely lovely #ASHG20 talk are published here in @AJHGNews
cell.com/ajhg/pdfExtend…
cell.com/ajhg/pdfExtend…
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