Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Life Sciences
Database Methods For Copy Number Variant Analysis Of One Hundred Disease Associated Genes In Human Congenital Heart Disease, Maureen E. Tuffnell
Database Methods For Copy Number Variant Analysis Of One Hundred Disease Associated Genes In Human Congenital Heart Disease, Maureen E. Tuffnell
Master's Theses (2009 -)
Human genetic variation occurs more commonly than was recognized after the completion of the Human Genome Sequencing Project in 2003. Submicroscopic human DNA analysis has revealed copy number variation (CNV) as the deletion or duplication of a genomic region potentially affecting gene dosage. Advanced genetic research now includes the study of CNVs in diseased subject groups compared to in house controls or online published datasets of control CNV data. Research labs choose from different bioinformatic algorithms to make the copy number calls. Solutions for further processing the copy number data into quantifiable form require collaboration with data analysts and include …