BioMed Research International / 2014 / Article / Tab 3

Research Article

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Table 3

Sequence capture performance results and variant identification among 70 affected patients.

AverageStandard deviationMinMax

CoverageCoverage, all regions1515.5105.177.1828.7
% Base ≥ 2x coverage, all regions1 99.0 0.00198.6100.0
% Base ≥ 30x coverage, all regions1 97.7 0.00793.5 99.2

Variant identificationVariants in all regions1202 18.2163241
Variants in all regions1 after filtering211 3.2621
Nonsynonymous variants in exons23 1.417
Synonymous variants in exons23 1.026
Variants in ± 10 bp intron, 3′UTR and 5′UTR variants25 2.7214

All regions = exons ± 10 bp intron sequence, 3′UTR and 5′UTR.
2Filtering against presence in ≥1% of dbSNP135 or 1000 genomes and presence in ≥4 in-house unrelated controls.
bp = base pair; UTR = untranslated region.

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