Additional file 3 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski & Pengfei Liu
Additional file 3: Figure S1. Genome-wide map for all predicted NAHR recurrent genomic deletions. Each predicted deletion event is marked as a green horizontal bar below the chromosome ideograms. The vertical bars above the chromosome ideograms illustrates the density for segmental duplications in a 1000-bp moving window. Figure S2. Compound heterozygous HNPP deletion and COX10 variant leading to recessive COX10 deficiency in Subjects #2 and #3. A. The COX10 gene spans the repeat sequence that...
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