Additional file 1 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

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; the 10% extra hypothetical uncharacterized alleles as described in the Methods section are not included. Table S5. Gene-level NAHR contribution to carrier allele and recessive disease burden as well as NAHR Deletion Impact to Recessive Traits (DIRT). This table is comprised of five panels, representing results generated using data from the general population and four specific ethnic groups, including African (AFR), Latino (AMR), East Asian (EAS), and European (EUR). Table S6. Meta-analyses for literature reported patients affected with the 13 recessive disorders contributed by significant NAHR-mediated deletion burden. Compound heterozygous variants are split into two rows with each row representing one variant. Table S7. Molecular findings of recurrent deletions identified from clinical exome sequencing. Table S8. Literature review for 15q13.3 recurrent deletions