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Article
Open AccessThe genomic basis of adaptive evolution in threespine sticklebacks
Marine stickleback fish have colonized and adapted to thousands of streams and lakes formed since the last ice age, providing an exceptional opportunity to characterize genomic mechanisms underlying repeated e...
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Article
Open AccessA high-resolution map of human evolutionary constraint using 29 mammals
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the ...
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Article
Erratum to: Closing gaps in the human genome using sequencing by synthesis
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Article
Advancing RNA-Seq analysis
New methods for analyzing RNA-Seq data enable de novo reconstruction of the transcriptome.
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Article
Open AccessWhole-genome resequencing reveals loci under selection during chicken domestication
The domestication of the chicken over a period of several thousand years and its later specialization into meat producing (broiler) and egg producing (layer) lines is an informative model of domestication and ...
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Article
Open AccessGenome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans
The genome of Phytophthora infestans, the pathogen that triggered the Irish potato famine in the nineteenth century, has been sequenced. It remains a devastating pathogen, with late blight destroying crops worth ...
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Article
Open AccessClosing gaps in the human genome using sequencing by synthesis
The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature....
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Article
Somatic mutations affect key pathways in lung adenocarcinoma
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative study to disco...
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Article
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
Mark Daly, Ramnik Xavier and colleagues report that a 20-kb deletion polymorphism upstream of IRGM is associated with altered IRGM expression and Crohn's disease. They also show that manipulation of IRGM levels i...
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Article
Evolutionary toggling of the MAPT 17q21.31 inversion region
Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in other great ape species. Their analyses suggest t...
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Article
Efficient map** of mendelian traits in dogs through genome-wide association
With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for map** genes that cause disease. Here we report the development of a genoty** array with ∼27,000 SNPs and show ...
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Article
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences
We report a high-quality draft of the genome sequence of the grey, short-tailed opossum (Monodelphis domestica). As the first metatherian (‘marsupial’) species to be sequenced, the opossum provides a unique persp...
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Article
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
Work on the human genome has reached the stage where there are only a few more chromosomes for which detailed sequence analysis remains to be published. The analysis of chromosome 17 is published this week. In...
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Article
Human chromosome 11 DNA sequence and analysis including novel gene identification
Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, includi...
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Article
Analysis of the DNA sequence and duplication history of human chromosome 15
Analysis of human chromosome 15 shows it to be highly segmentally duplicated. The duplications are unusual in that they are clustered in two distinct regions, rather than distributed all along the chromosome. ...
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Article
DNA sequence and analysis of human chromosome 8
The finished sequence for human chromosome 8 is now published. It features a 15-megabase stretch that has a much greater mutation rate in hominids than the corresponding region in other mammals. Included in th...
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Article
Common deletion polymorphisms in the human genome
The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to ...
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Article
Correction: Corrigendum: DNA sequence and analysis of human chromosome 18
Nature 437, 551–555 (2005) doi:10.1038/nature03983 The name of Keith O'Neill was accidentally omitted from the published author list. He is at the first affiliation in the address list.
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Article
Genome sequence, comparative analysis and haplotype structure of the domestic dog
Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest bec...
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Article
DNA sequence and analysis of human chromosome 18
The sequence of human chromosome 18, which has the lowest gene density of any human chromosome, is now complete. Surprisingly, the proportion of non-protein-coding regions evolutionarily conserved among mammal...
