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Somatic point mutation calling in low cellularity tumors

ABSTRACT: Illumina 1M Omni Quad arrays were used to test mutation calling accuracy of qSNP tool (a mutation caller) Ilumina array genotypes with GenCal (GC score)>0.70 were used in the comparison of genotype calls using next generation sequencing data and qSNP (mutation caller) 2 samples (control cell line and Melanoma cell line). This is the data for a validation step. contributor: Australian Pancreatic Cancer Genome Initiative

ORGANISM(S): Homo sapiens

SUBMITTER: Darrin Taylor

PROVIDER: E-GEOD-47904 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Somatic point mutation calling in low cellularity tumors

Project description:Illumina 1M Omni Quad arrays were used to test mutation calling accuracy of qSNP tool (a mutation caller) Ilumina array genotypes with GenCal (GC score)>0.70 were used in the comparison of genotype calls using next generation sequencing data and qSNP (mutation caller)

2014-06-13 | GSE47904 | GEO

RNA-Sequencing Identifies Novel Imprinted Genes in Human Placenta (SNP genotyping)

Project description:Fetal health is dependent upon the epigenetic-based regulation of gene expression in placenta. Genomic imprinting is an epigenetic phenomenon common to placenta and refers to the monoallelic expression of a gene in a parental-specific manner. We aimed to detect novel imprinted genes in human placenta by applying whole transcriptome RNA-sequencing and genotyping of coding variants. Ten family trios with healthy spontaneous single term pregnancy were recruited. Parental and child DNA genotypes were analysed using exome SNP genotyping microarrays, revealing the inheritance of parental alleles. Total RNA was extracted from placental tissue for whole transcriptome analysis. The imprinted genes showed consistent expression from either parental allele as demonstrated by the SNP content of sequenced transcripts. We found seven novel imprinted genes (ABP1, BCLAF1, IFI30, LGALS8, LGALS14, PAPPA2 and SPTLC3) and confirmed five known imprinted genes (AIM1, PEG10, RHOBTB3, ZFAT and ZFAT-AS1). The main functions of the proteins encoded by the imprinted genes can be grouped as being involved in: i) cellular apoptosis and tissue development; ii) regulating inflammation and modulating the immune system; iii) facilitating metabolic processes and iv) regulating the cell cycle. Ten family trios (mother, father, child) were analysed using SNP genotyping. Raw data contains additional two samples that were not used.

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