R. Waterston

Publications469
h-index92
Citations58,759
Highly Influential Citations2,570
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Initial sequencing and analysis of the human genome.
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
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Complete genome sequence of Salmonella enterica serovar Typhimurium LT2
Salmonella enterica subspecies I, serovar Typhimurium (S. typhimurium), is a leading cause of human gastroenteritis, and is used as a mouse model of human typhoid fever. The incidence of non-typhoid…
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The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
TLDR
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length, and is a mosaic of heterochromatic sequences and three classes of euchromatics sequences: X-transposed, X-degenerate and ampliconic.
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Initial sequencing and comparative analysis of the mouse genome.
TLDR
The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
TLDR
This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
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The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics
TLDR
Comparisons of the two genomes exhibit extensive colinearity, and the rate of divergence appears to be higher in the chromosomal arms than in the centers, which will help to understand the evolutionary forces that mold nematode genomes.
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Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map
Single nucleotide polymorphisms (SNPs) are valuable genetic markers of human disease. They also comprise the highest potential density marker set available for mapping experimentally derived…
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Finding Functional Features in Saccharomyces Genomes by Phylogenetic Footprinting
TLDR
Comparison of genome sequences of six Saccharomyces species allowed us to revise the catalog of yeast genes and identify sequence motifs that may be targets of transcriptional regulatory proteins.
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The DNA sequence of the human X chromosome
TLDR
This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
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Muscle cell attachment in Caenorhabditis elegans
TLDR
In an effort to define the chain of molecules that anchor the muscle cells to the cuticle, five mAbs are isolated using preparations enriched in these components and it is suggested that the components recognized are likely to be involved in the transmission of tension from the muscle cell to theCuticle.
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