Study

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Study ID Alternative Stable ID Type
EGAS00001002333 Other

Study Description

We whole genome sequence 2 patients with congenital abnormalities and known complex de novo chromosomal rearrangements using the Nanopore MinION. We show how we can detect most previoulsy detected de novo rearrangements as well as uncover a few new ones. Furthermore, we perform genome-wide analyses showing the accuracy of SV detection and of phasing, using long reads. The files uploaded here are the whole genome Nanopore data for each of the two patients used, as well as the corresponding whole genome illumina data, used in our comparisons.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001003510
BAM files with sequencing reads derived from Illumina whole genome sequencing of two DNA samples from lymphoblastoid cell lines from two patients with congenital disease. Whole genome sequencing was performed using Illumina HiSeq X Ten and samples were prepared using TruSeq library prep.
HiSeq X Ten 2
EGAD00001003511
BAM files with sequencing reads derived from Oxford Nanopore MinION whole genome sequencing of two DNA samples from lymphoblastoid cell lines from two patients with congenital disease. Samples were prepared using 1D and 2D library preps.
MinION 2

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