Genomics

Dataset Information

8

Benchmark and validation of whole exome sequencing of a trio and singleton

ABSTRACT: Whole exome paired-end sequencing data was obtained for a trio and a fourth unrelated individual sequenced to high depth (95x) using a paired-end library with the Illumina HiSeq platform and aligned by BWA 0.5.9. The bam files were analysed and experimentally vaidated for the novel insertion of mobile elements.

PROVIDER: EGAS00001000852 | EGA |

REPOSITORIES: EGA

Json Xml
altmetric image

Publications

Mobster: accurate detection of mobile element insertions in next generation sequencing data.

Thung Djie Tjwan DT   de Ligt Joep J   Vissers Lisenka E M LE   Steehouwer Marloes M   Kroon Mark M   de Vries Petra P   Slagboom Eline P EP   Ye Kai K   Veltman Joris A JA   Hehir-Kwa Jayne Y JY  

Genome biology 20140101 10

Mobile elements are major drivers in changing genomic architecture and can cause disease. The detection of mobile elements is hindered due to the low mappability of their highly repetitive sequences. We have developed an algorithm, called Mobster, to detect non-reference mobile element insertions in next generation sequencing data from both whole genome and whole exome studies. Mobster uses discordant read pairs and clipped reads in combination with consensus sequences of known active mobile ele  ...[more]

Similar Datasets

Genomics
| PRJEB3204 | ENA
Genomics
| PRJEB1357 | ENA
Genomics Paired end protocol test
| PRJEB2279 | ENA
Genomics Danio rerio
| PRJNA99051 | ENA
Genomics peat metagenome
| PRJDB12674 | ENA
Genomics
| PRJNA557477 | ENA
Transcriptomics Epigenetically-controlled tumor antigens derived from splice junctions between exons and transposable elements [RNA-seq]
2022-11-22 | GSE208388 | GEO
Methylation profiling Analysis of DNA methylation dynamics at Alu elements during human B cell activation
2013-03-01 | GSE42386 | GEO
Transcriptomics CRISPR/dCas-based modulation of bacterial IS-transposition
2019-02-21 | GSE110946 | GEO
Genomics
| PRJNA510714 | ENA