Additional file 1 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 1: Table S1. All clinically reported recurrent deletions and their prevalence estimates. Table S2. All 717 recurrent genomic deletions predicted based on the repeat structure in the human reference genome GRCh38. Table S3. Carrier disease allele frequencies by allele. Table S4. Carrier allele frequency burden by gene. The list is ranked by genes from the highest burden to the lowest burden. The frequency burden in this list only includes the actual observed variants;...
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