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Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 
- Vol. 409, Iss: 6822, pp 860-921
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.
Abstract: 
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.

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Citations
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Journal ArticleDOI

The Pfam protein families database

Marco Punta, +15 more
- 01 Jan 2000 - 
TL;DR: The definition and use of family-specific, manually curated gathering thresholds are explained and some of the features of domains of unknown function (also known as DUFs) are discussed, which constitute a rapidly growing class of families within Pfam.
Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI

Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets

Benjamin P. Lewis, +2 more
- 14 Jan 2005 - 
TL;DR: In a four-genome analysis of 3' UTRs, approximately 13,000 regulatory relationships were detected above the estimate of false-positive predictions, thereby implicating as miRNA targets more than 5300 human genes, which represented 30% of the gene set.
Journal ArticleDOI

The Human Genome Browser at UCSC

W. James Kent, +6 more
- 01 Jun 2002 - 
TL;DR: A mature web tool for rapid and reliable display of any requested portion of the genome at any scale, together with several dozen aligned annotation tracks, is provided at http://genome.ucsc.edu.
Journal ArticleDOI

Velvet: Algorithms for de novo short read assembly using de Bruijn graphs

Daniel R. Zerbino, +1 more
- 01 May 2008 - 
TL;DR: Velvet represents a new approach to assembly that can leverage very short reads in combination with read pairs to produce useful assemblies and is in close agreement with simulated results without read-pair information.
References
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Journal ArticleDOI

tRNA gene number and codon usage in the C. elegans genome are co-adapted for optimal translation of highly expressed genes.

Laurent Duret
- 01 Jul 2000 - 
TL;DR: This work investigates the relationship between the frequency of tRNA genes and dosage compensation on the X chromosome in C. elegans and the results suggest that the former are more predictive of disease than the latter.
Journal ArticleDOI

Random-clone strategy for genomic restriction mapping in yeast.

Maynard V. Olson, +8 more
- 01 Oct 1986 - 
TL;DR: In this article, an approach to global restriction mapping is described that is applicable to any complex source DNA, by analyzing a single restriction digest for each member of a redundant set of lambda clones, a data base is constructed that contains fragment size lists for all the clones.
Journal ArticleDOI

Human/mouse homology relationships.

Ronald W. DeBry, +1 more
- 01 May 1996 - 
TL;DR: This work has made a particular effort to include recent human physical mapping data and to identify those mouse genes that have been well-mapped with respect to each other by virtue of having been examined in the same cross.
Journal ArticleDOI

SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease

Eden R. Martin, +18 more
- 01 Aug 2000 - 
TL;DR: It is found that a high density of markers will be necessary in order to have a good chance of including SNPs with detectable levels of allelic association with the disease mutation, and statistical analysis based on haplotypes can provide additional information with respect to tests of significance and fine localization of complex disease genes.
Journal ArticleDOI

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, +12 more
- 01 Nov 2000 - 
TL;DR: Identification of the gene GAN, which encodes a novel, ubiquitously expressed protein which is predicted to adopt a β-propeller shape, predicts that gigaxonin is a novel and distinct cytoskeletal protein that may represent a general pathological target for other neurodegenerative disorders with alterations in the neurofilament network.
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