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GenomicsLong Span DNA Paired-End-Tag (DNA-PET) Sequencing Strategy for the Interrogation of Genomic Structural Mutations
Structural variations (SVs) contribute significantly to the variability of the human genome and extensive genomic rearrangements are a hallmark of cancer. Genomic DNA paired-end-tag (DNA-PET) sequencing is an attractive approach to identify genomic SVs. The current application of PET sequencing with...
ORGANISM(S): Homo sapiens 
2012-10-04 | E-GEOD-32674 | biostudies-arrayexpress
GenomicsComprehensive Long Span Paired-End-Tag Mapping Reveals Characteristic Patterns of Structural Variations in Epithelial Cancer Genomes
Somatic genome rearrangements are thought to play important roles in cancer development. We optimized a long span paired-end-tag (PET) sequencing approach using 10 Kb genomic DNA inserts to study human genome structural variations (SVs). The use of 10 Kb insert size allows the identification of brea...
ORGANISM(S): Homo sapiens 
2011-04-06 | E-GEOD-26954 | biostudies-arrayexpress
GenomicsGenome sequencing coupled with iPSC technology identifies GTDC1 as a novel candidate gene involved in Neurodevelopmental Disorders
We identified genomic structural alterations of six patients with signs of neurodevelopmental disorder (NDDs) that harbour chromosomal rearrangements using large-insert paired-end tag sequencing (DNA-PET). This technique allowed the refinement of chromosomal breakpoints and lead to the identificatio...
ORGANISM(S): Homo sapiens 
2014-09-03 | E-GEOD-51430 | biostudies-arrayexpress
GenomicsAn East-Asian polymorphism underlies BCR-ABL mutation-independent resistance to tyrosine kinase inhibitors in chronic myelogenous leukemia
We used massively parallel DNA sequencing of paired-end ditags (DNA-PET) to identify structural genetic factors associated with disease progression and drug-resistance in representative samples from four CML patients and one CML cell line. The functional consequences of our genetic findings were ev...
ORGANISM(S): Homo sapiens 
2012-02-27 | E-GEOD-28303 | biostudies-arrayexpress
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
GenomicsWhole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
EGAS00001002193 | EGA
GenomicsData access committee for BAMS exome sequencing data.
Data Access Committee EGAC00001000583
EGAC00001000583 | EGA
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