41 fibroblast RNAseq samples of pediatric patients with childhood epilepsy and developmental delay

We used RNA sequencing of patient fibroblasts to find a genetic diagnosis in patients with exome-negative childhood epilepsy. RNA extracted from 41 individuals' cultured fibroblasts (passage 3-6) was collected and sequenced at a depth of 90-110 paired reads per sample.

Type: RNASeq
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000001166	RNA sequencing of fibroblasts from pediatric patients with childhood epilepsy. Fibroblast RNA was extracted at passage 3-6 using MN nucleospin, >90M 150bp paired-end reads per sample were obtained with illumina sequencing. Reads were aligned to hg38.	Illumina NovaSeq 6000	41