Mapping and sequencing of structural variation from eight human genomes

By J. Kidd, Gregory M. Cooper, William F. Donahue, H. Hayden, N. Sampas, Tina Graves, Nancy F. Hansen, Brian Teague, Can Alkan, F. Antonacci and 36 more. Nature, 2008

1,208 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/b6f4560b729ac6fc0092b81ce38986b03a426d94

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Citations in the corpus

Copy number variation detection and genotyping from exome sequence data (2012, methodology): “Copy number variation of the eight HapMap samples was previously assessed by array-CGH, whole-genome shotgun sequencing, and targeted clone sequencing (Kidd et al. 2008; The 1000 Genomes Project Consortium 2010; Sudmant et al. 2010; Conrad et al. 2011).”
Human and chimpanzee Luteinizing hormone/ Chorionic Gonadotropin beta (LHB/CGB) gene clusters: diversity and divergence of young duplicated genes (2009, background): “The duplication architecture of a genome also influences normal phenotypic variation as 12% of human genome is estimated to consist of copy number variable regions differing between individuals (Kidd et al. 2008; Korbel et al. 2007; Redon et al. 2006; Wong et al. 2007).”
The UCSC Genome Browser Database: update 2009 (2008, background): “(23) that maps clones from eight individuals from the HapMap Project (24) to the reference assembly.”
Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing (2009, neutral): “The human genome is enriched for gene-rich segmental duplications that vary extensively in copy number 1-4.”
AlleleSeq: analysis of allele-specific expression and binding in a network framework (2011, methodology): “…a personal diploid genome of NA12878 (see Materials and methods), by utilizing genomic variations (see Table II for summary statistics) determined in the framework of The 1000 Genomes Project Consortium (2010) and, additionally, SVs determined by sequencing of fosmid clones (Kidd et al , 2008).”
De novo assembly and genotyping of variants using colored de Bruijn graphs (2012, methodology): “Fifth, although there are methods for detecting large structural variants, such as using array comparative genomic hybridization (aCGH) 22–25 and mapped reads 11,12,14,26 , these cannot determine the exact location, size or allelic sequence of variants.”
Combinatorial Algorithms for Structural Variation Detection in High Throughput Sequenced Genomes (2009, methodology): “Note that since the sequence coverage of the fosmid end-sequence library used by Kidd et al. (2008) is only 0.3 3 , the DIP database mentioned above is far from being complete.”
Natural genetic variation caused by small insertions and deletions in the human genome. (2011, background): “…and deletions (INDELs) ranging from 1 bp to 10 kb in length (Weber et al. 2002; Bhangale et al. 2005; Mills et al. 2006; Korbel et al. 2007; Kidd et al. 2008; The 1000 Genomes Project Consortium 2010), and larger structural variants ranging from 10 kb to several megabases in length…”