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Genome wide DNA methylation profiling of primary neuroblastomas. The Illumina 450k methylation array was used to obtain DNA methylation profiles across approximately 485,000 CpGs in 105 neuroblastomas. Tumors were derived from 40 low-risk, 9 intermediate-risk and 56 high-risk patients. Bisulphite c...
ORGANISM(S): Homo sapiens 

The project developed a suite of new methods (FAVR) designed to assist the shortlisting of genetic variants under a rare variant-phenotype/disease model. The methods were designed to work with commonly used massively parallel sequencing analysis pipelines, such as the GATK or ANNOVAR, and have be...

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