Unknown,Transcriptomics,Genomics,Proteomics

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Patient-derived primary cultures of paediatric high grade glioma and DIPG - molecular profiling by methylation array (Infinium HumanMethylation450)

ABSTRACT: Molecular profiling by methylation array (Illumina Infinium HumanMethylation450K) in a panel of models generated under 2D (laminin matrix) and/or 3D (neurospheres) conditions fully credentialed by phenotypic and molecular comparison to the original tumour sample. Patient-derived in vitro primary cell cultures represent potentially useful tools for mechanistic and preclinical investigation based upon their retention of key features of tumour subgroups under experimental conditions amenable to high-throughput approaches.

ORGANISM(S): Homo sapiens

SUBMITTER: Alan Mackay

PROVIDER: E-MTAB-9298 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Project description:BackgroundDNA methylation is indispensible for normal human genome function. Currently there is an increasingly large number of DNA methylomic data being released in the public domain allowing for an opportunity to investigate the relationships between the DNA methylome, genome function, and human phenotypes. The Illumina450K is one of the most popular platforms for assessing DNA methylation with over 10,000 samples available in the public domain. However, accessing all this data requires downloading each individual experiment and due to inconsistent annotation, accessing the right data can be a challenge.DescriptionHere we introduce 'Marmal-aid', the first standardised database for DNA methylation (freely available at http://marmal-aid.org). In Marmal-aid, the majority of publicly available Illumina HumanMethylation450 data is incorporated into a single repository allowing for re-processing of data including normalisation and imputation of missing values. The database is accessible in two ways: (1) Using an R package to allow for incorporation into existing analysis pipelines which can then be easily queried to gain insight into the functionality of certain CpG sites. This is aimed at a bioinformatician with experience in R. (2) Using a graphical interface allowing general biologists to query a pre-defined set of tissues (currently 15) providing a reference database of the methylation state in these tissues for the 450,000 CpG sites profiled by the Illumina HumanMethylation450.ConclusionMarmal-aid is the largest publicly available Illumina HumanMethylation450 methylation database combining Illumina HumanMethylation450 data from a number of sources into a single location with a single common annotation format. This allows for automated extraction using the R package and inclusion into existing analysis pipelines. Marmal-aid also provides a easy to use GUI to visualise methylation data in user defined genomic regions for various reference tissues.