reviewTop 1% cited

Genome structural variation discovery and genotyping

Nature Reviews Genetics · 2011 · Vol. 12(5) · pp. 363–376

Can Alkan✉(University of Washington)Bradley P. Coe(University of Washington)Evan E. Eichler(Howard Hughes Medical Institute)

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Genomic variations and chromosomal abnormalities Genomics and Phylogenetic Studies Genomics and Rare DiseasesStructural variationBiologyGenotypingCopy-number variationGenomeComputational biologyVariation (astronomy)Human genomeReference genomeGenetics

MeSH terms

GenotypeHumansGenetic VariationGenome, HumanSequence Analysis, DNAOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideDNA Copy Number VariationsHigh-Throughput Nucleotide Sequencing

Funding

Wellcome Trust

Citations

1,696

FWCI

70.39

field-weighted impact

References

121

Percentile

100%

vs. same field & year

Citations per year

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References

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

Nature Genetics · 1998 · 2,247 citations

ABySS: A parallel assembler for short read sequence data

Genome Research · 2009 · 3,741 citations

Structural variation in the human genome

Nature Reviews Genetics · 2006 · 2,063 citations

Genome architecture, rearrangements and genomic disorders

Trends in Genetics · 2002 · 919 citations

Detection of large-scale variation in the human genome

Nature Genetics · 2004 · 2,910 citations

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

The American Journal of Human Genetics · 2010 · 2,855 citations

The Diploid Genome Sequence of an Individual Human

PLoS Biology · 2007 · 1,817 citations

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Genome Research · 2007 · 1,892 citations

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