Fig. 3: Study design. | Nature Communications

Fig. 3: Study design.

From: Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

Fig. 3

Clinic p.Asp76Asn carriers comprise nine probands seen at the VUMC Genetic Arrhythmia Clinic and three related carriers identified through cascade screening. IBD-based genotype inference using the DRIVE tool was deployed in VUMC BioVU, which links the deidentified electronic health record to genomic data, to identify individuals who shared chromosomal segments at KCNE1 with the clinic carriers. Exome sequencing confirmed p.Asp76Asn carrier status in 22/23 biobank individuals identified via IBD, resulting in total of 34 p.Asp76Asn carriers at a single center. BioVU subjects without shared KCNE1 segments who also had at least one ECG that met inclusion criteria detailed in Methods (*) were used as the control group. IBD Identical by descent, DRIVE Distant relatedness for Identification and Variant Evaluation, ECG Electrocardiogram.

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