Detection of large-scale variation in the human genome

Detection of large-scale variation in the human genome

Published online 1 August 2004; doi:10.1038/ng1416 | A John Iafrate1,2, Lars Feuk3, Miguel N Rivera1,2, Marc L Listewnik1, Patricia K Donahoe2,4, Ying Qi3, Stephen W Scherer2,5 & Charles Lee1,2,5
The authors identified 255 loci across the human genome that exhibit genomic imbalances among unrelated individuals, with 24 variants present in more than 10% of the individuals studied. These variants often overlap with genes, segmental duplications, or gaps in the human genome assembly, suggesting a more dynamic and heterogeneous structure of the human genome. The study used array-based comparative genomic hybridization (array CGH) to analyze the genomes of 55 unrelated individuals, including those with previously characterized chromosomal imbalances. The identified large-scale copy-number variations (LCVs) may contribute to phenotypic variation and disease susceptibility. The most common LCV involves the amylase alpha 1a and alpha 2a locus (AMY1A-AMY2A) on chromosome 1p13.3, with gains and losses observed in 23.6% and 25.5% of cases, respectively. The authors also found that 142 of the 255 polymorphic clones overlapped with known coding regions, indicating that LCVs can affect gene expression and potentially lead to genetic diseases or subtle phenotypic variations. The findings highlight the importance of cataloging these large-scale genomic variations for understanding human genetic diversity and disease.The authors identified 255 loci across the human genome that exhibit genomic imbalances among unrelated individuals, with 24 variants present in more than 10% of the individuals studied. These variants often overlap with genes, segmental duplications, or gaps in the human genome assembly, suggesting a more dynamic and heterogeneous structure of the human genome. The study used array-based comparative genomic hybridization (array CGH) to analyze the genomes of 55 unrelated individuals, including those with previously characterized chromosomal imbalances. The identified large-scale copy-number variations (LCVs) may contribute to phenotypic variation and disease susceptibility. The most common LCV involves the amylase alpha 1a and alpha 2a locus (AMY1A-AMY2A) on chromosome 1p13.3, with gains and losses observed in 23.6% and 25.5% of cases, respectively. The authors also found that 142 of the 255 polymorphic clones overlapped with known coding regions, indicating that LCVs can affect gene expression and potentially lead to genetic diseases or subtle phenotypic variations. The findings highlight the importance of cataloging these large-scale genomic variations for understanding human genetic diversity and disease.
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[slides and audio] Detection of large-scale variation in the human genome