Genomic FISHing: Data Analysis for Chromosomal Imbalances using DNA Arrays
نویسندگان
چکیده
Microarrays for genomic analysis pose a rather serious challenge for statistical inference on the quality of data. With the ability to attach large genomic fragments on the array substrate, it is now possible to search for chromosomal imbalances related to various diseases at a significantly improved resolution. The challenge lies in understanding the experimental characteristics and modeling the erroneous noise to analyze and interpret the data. This paper presents a method of analysis that addresses the issues related to background noise, dye non-linearities, normalization, and replicate analysis. Data from three different cases is presented.
منابع مشابه
Chromosome transfer induced aneuploidy results in complex dysregulation of the cellular transcriptome in immortalized and cancer cells.
Chromosomal aneuploidies are observed in essentially all sporadic carcinomas. These aneuploidies result in tumor-specific patterns of genomic imbalances that are acquired early during tumorigenesis, continuously selected for and faithfully maintained in cancer cells. Although the paradigm of translocation induced oncogene activation in hematologic malignancies is firmly established, it is not k...
متن کاملDNA Ploidy and Chromosomal Imbalances in Invasive Ductal Breast Cancer. A Comparative Study of DNA Image Cytometry and Comparative Genomic Hybridization (CGH)
Chromosomal imbalances were analyzed in 62 breast cancers with different DNA ploidy by CGH. The results of DNA image cytometry and CGH are consistent with peridiploid and aneuploid cases. The peritetraploid tumors harbored a high number of chromosomal imbalances, as a hint for an unfavorable prognosis. The quantitative analysis of imbalances highlighted the role of different physical constituen...
متن کاملLack of chromosomal imbalances in adamantinomatous and papillary craniopharyngiomas.
Craniopharyngiomas are among the most common paediatric tumours and are thought to arise from embryonic remnants of Rathke's pouch. The molecular mechanisms involved in their formation remain elusive and little is known about chromosomal imbalances that could suggest the locations of tumour suppressor or proto-oncogenes involved in the pathogenesis. The paucity of published data on the molecula...
متن کاملMicroarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.
OBJECTIVE To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and...
متن کاملClinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.
INTRODUCTION Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. METHODS AND RESULTS In th...
متن کامل