Table 2.
Filtering Procedure for Bioinformatic Analysis
| Individuals |
Single-Nucleotide Variations |
||||
|---|---|---|---|---|---|
| Total | Without Duplicatesa | Not in Databasesb | In Essential Splicing and Coding Regionsc | Deleterious/Damaging or Unknownd | |
| Family 1, sibling 1 (Csg) | 11,534 | 5,560 | 216 | 60 | 11 |
| Family 1, sibling 2 (Csg) | 11,324 | 5,245 | 159 | 35 | 4 |
| Family 1, siblings 1+2 | 8,881 | 4,590 | 70 | 18 | 2 |
Abbreviation is as follows: Csg, consanguinity.
a
Without duplicates resulting from the homozygous status of subjects.
b
Databases searched were dbSNP, 1000 Genomes, Exome Variant Server, and in-house exomes.
c
Variants included were essential splicing and nonsynonymous (missense, nonsense, deletion and insertion); eliminated variants were intergenic or intronic noncoding RNA or UTR splicing.
d
As determined by SIFT or PolyPhen.