Detection of large-scale variation in the human genome

Keywords

Biology, Genome, Human genome, Genetics, Structural variation

References

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Cited by

• [Copy number variations in the human genome: their mutational mechanisms and roles in diseases].Renqian Du, Jin Li, Feng Zhang — 2011
• Bioinformatics for copy number variation data.Melissa B. Warden, Roger Piqué-Regi, Antonio Ortega — 2011
• Fine-scale structural variation of the human genomePatricia Ordóñez de Pablos — 2005
• Genome-wide aberrations in pancreatic adenocarcinoma.敏幸 齋藤, 代志治 相本, 誠 吉田 — 2005
• Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.Evelyn R. Babey — 2005
• Allele-Specific Amplification in Cancer Revealed by SNP Array AnalysisАнилова Людмила Вячеславовна, Шарыгина Мария Валерьевна — 2005
• Intra- and interindividual epigenetic variation in human germ cells.Pamela Ramming, Caroline S. Kyger, Stacy Thompson — 2006
• Structural divergence between the human and chimpanzee genomes旬子 内澤 — 2007
• 'Other' applications of single nucleotide polymorphisms.Mihai Ovidiu Cercel — 2007
• Partial deletion of CYP2B6 owing to unequal crossover with CYP2B7Andrew Jefferson, Rohan S. Wijesurendra, Janet E. Digby — 2007
• Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans.崇宏 星野, 謙介 岡田 — 2008
• Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomesGiovanna Pavarin — 2008
• Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysisAlex Souto Maior, Antônio Alves, Zoe Docherty — 2008
• Whole population, genome-wide mapping of hidden relatedness.Ida Lundin — 2009
• MSB: a mean-shift-based approach for the analysis of structural variation in the genome.Beverly Hernandez — 2008
• MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetesRosa Tamara Sornoza Vásquez, James Loughman, R. A. Moriena — 2009
• A prominent role for segmental duplications in modeling eukaryotic genomes.Sukanto Reksohadiprodjo — 2009
• Computational methods for identification of recurrent copy number alteration patterns by array CGHSohrab P. Shah — 2009
• Chromosomal imbalances and partial uniparental disomies in primary central nervous system lymphomaMarc Bojanic — 2009
• Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratoriesKaren D. Tsuchiya, Lisa G. Shaffer, Swaroop Aradhya — 2009

Related papers

• Genomic Variation: Lessons Learned from Whole-Genome CNV AnalysisErin Rooney Riggs, David H. Ledbetter, Christa Lese Martin — 2014
• The Copy Number Variation in the Human Genome and the Research and Development of New DrugsZhi‐Zhong Chen — 2007
• GENETIC ASSOCIATION ANALYSIS OF COPY NUMBER VARIATION (CNVs) IN HUMAN DISEASE PATHOGENESISIuliana Ionita‐Laza, Angela J. Rogers, Christoph Lange — 2008
• Structural variation in the human genomeLars Feuk, Andrew R. Carson, Stephen W. Scherer — 2006
• [Copy-number variation: a new pattern of structural diversity in genome].Zhijun Wu, Wei Jin — 2009
• Copy number variation and human genome mapsSteven A. McCarroll — 2010
• Copy number variation: new insights in genome diversity.Jennifer L. Freeman, George H. Perry, Lars Feuk — 2006
• What a difference copy number variation makes.Hildegard Kehrer‐Sawatzki — 2007
• Copy number variation.Louise V. Wain, Martin D. Tobin — 2011