Table 1. Numbers of shared rare variants remaining after filtering.
II.1 | II.2 | |
---|---|---|
% Captured regions, coverage >10x; Q>30 | 92 | 91 |
Average coverage of captured region (x) | 51 | 43 |
Total number of SNPs | 91 412 | 82 221 |
Total number of indels | 6851 | 5937 |
Rare homozygous variants | 0 | |
Rare compound heterozygous variants | 11 (0) | |
Rare X-linked variants | 4 (2) | |
Rare de novo variants | 0 | |
Rare inherited variants (maternal) | 56 (5) | |
Rare inherited variants (paternal) | 49 (5) |
Abbreviation: SNP, single-nucleotide polymorphism.
Provides the numbers of rare variants (MAF <1%) remaining after filtering against population databases (1000 genomes and the Exome Variant Server), with the number predicted functionally damaging by all four prediction algorithms within brackets, and listed by potential mechanisms of inheritance.