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. 2022 Sep 26;4(1):100146. doi: 10.1016/j.xhgg.2022.100146

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© 2022 The Author(s)

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Haplotype analysis of HD individuals

(A) Frequencies of top 10 haplotypes of HD samples.

(B) Violin plot showing the distribution of repeat sizes in different haplotypes of the mHTT chromosomes. The red dots indicate the median of the repeat size.

(C) Scatterplot showing haplotype frequencies of the normal chromosomes and 1000 Genomes individuals (phase 3, non-Finnish European population).

(D) Scatterplot showing haplotype frequencies of the mHTT chromosomes and 1000 Genomes individuals (phase 3, non-Finnish European population).

(E and F) Frequencies of Hap1 in mHTT chromosomes in HD samples from different continents and ethnicities.

(G) Percentage of HD individuals who can be edited, based on the haplotype analysis.