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Article
Characterization of missing human genome sequences and copy-number polymorphic insertions
Paired-end sequencing of human genomic DNA reveals at least 2.8 Mb of new sequence at 720 distinct loci. Complete sequencing of 1.67 Mb at 192 loci reveals extensive copy-number variation and provides a resour...
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Article
Map** and sequencing of structural variation from eight human genomes
Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale...
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Article
Closing gaps in the human genome with fosmid resources generated from multiple individuals
The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. ...
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Article
Feature extraction and clustering tools for analysing gene expression data from DNA microarrays