Table 9.
Top 20 OMIM genes showing the best improvement in genotypability.
OMIM | % Genotypability | % Diff. | %10X Coverage | ||||
---|---|---|---|---|---|---|---|
S | M | L | S | M | L | ||
RPS26 | 47.13 | 100 | 100 | 52.87 | 100 | 100 | 100 |
RPL15 | 49.98 | 100 | 100 | 50.02 | 99.90 | 100 | 100 |
RPL21 | 60.60 | 100 | 100 | 39.4 | 100 | 100 | 100 |
RPSA | 63.29 | 100 | 100 | 36.71 | 100 | 100 | 100 |
GCSH | 64.56 | 100 | 97.38 | 35.44 | 100 | 100 | 100 |
HNRNPA1 | 66.84 | 100 | 100 | 33.16 | 100 | 100 | 100 |
CISD2 | 53.37 | 85.15 | 100 | 31.78 | 100 | 100 | 100 |
IFNL3 | 69.43 | 100 | 100 | 30.57 | 100 | 100 | 100 |
LEFTY2 | 74.00 | 100 | 100 | 26.00 | 100 | 100 | 100 |
BMPR1A | 74.19 | 100 | 100 | 25.81 | 100 | 100 | 100 |
RPS23 | 75.00 | 100 | 100 | 25.00 | 100 | 100 | 100 |
ISCA1 | 75.13 | 100 | 100 | 24.87 | 100 | 100 | 100 |
ALG10 | 75.15 | 100 | 100 | 24.85 | 100 | 100 | 100 |
IFITM3 | 77.53 | 100 | 100 | 22.47 | 100 | 100 | 100 |
PTEN | 78.55 | 100 | 100 | 21.45 | 98.49 | 100 | 100 |
BANF1 | 78.64 | 100 | 100 | 21.36 | 100 | 100 | 100 |
HLA-A | 79.02 | 100 | 100 | 20.98 | 99.88 | 100 | 99.82 |
RPS28 | 80.79 | 100 | 100 | 19.21 | 100 | 100 | 100 |
RP9 | 78.88 | 97.60 | 100 | 18.72 | 100 | 100 | 100 |
CYP11B1 | 81.73 | 100 | 100 | 18.27 | 100 | 100 | 100 |
Top 20 OMIM genes showing the best improvement in genotypability following the extension of the DNA fragment length from short to medium and short to long (Twist enrichment platform). The data represent the maximum difference in genotypability at 80X mapped coverage on the Twist design. DNA fragment lengths: S = short, M = medium, L = long.