Study

Quality of Whole Genome Sequencing from Blood versus Saliva Derived DNA in Cardiac Patients

Study ID Alternative Stable ID Type
EGAS00001004115 Whole Genome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005772 Paired blood and saliva samples from five unrelated individuals were directly compared for quality of whole genome sequencing. Two (Sample Pairs 1 and 2) were female probands diagnosed with tetralogy of Fallot, a type of congenital heart disease, and three (Sample Pairs 3, 4 and 5) were male probands diagnosed with hypertrophic cardiomyopathy. WGS was performed using Illumina HiSeq X to a target average coverage depth of 30x and a read length of 150 bp. The resulting reads were not filtered for minimum quality in order to avoid losing possible contaminant reads. Sequencing read alignment was done using Isaac Aligner to human genome build hg19. Short variant i.e. single-nucleotide variant (SNV) and small insertion-deletion (indel) calling was performed using Isaac Variant Caller with default parameters. 10

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Publications

Publications Citations
Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients.
BMC Med Genomics 13:2020 11
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