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Open AccessJournal ArticleDOI

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

Alu repeats and human genomic diversity

TL;DR: During the past 65 million years, Alu elements have propagated to more than one million copies in primate genomes, which has resulted in the generation of a series of Alu subfamilies of different ages.
Journal ArticleDOI

An Eulerian path approach to DNA fragment assembly

TL;DR: This work abandons the classical “overlap–layout–consensus” approach in favor of a new euler algorithm that, for the first time, resolves the 20-year-old “repeat problem” in fragment assembly.
Journal ArticleDOI

Interactome Networks and Human Disease

TL;DR: In this paper, the authors discuss different types of interactome networks and the insights that can come from analyzing them, including how they can be mapped and integrated with each other, what global properties are starting to emerge from interactome network models, and how these properties may relate to human disease.
Journal ArticleDOI

Two rounds of whole genome duplication in the ancestral vertebrate.

TL;DR: The hypothesis that the relatively large and complex vertebrate genome was created by two ancient, whole genome duplications has been hotly debated, and the potential for these large-scale genomic events to have driven the evolutionary success of the vertebrate lineage is highlighted.
Journal ArticleDOI

The microRNAs of Caenorhabditis elegans

TL;DR: The census of the worm miRNAs and their expression patterns helps define this class of noncoding RNAs, lays the groundwork for functional studies, and provides the tools for more comprehensive analyses of miRNA genes in other species.
References
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Journal ArticleDOI

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.

TL;DR: A new criterion for triggering the extension of word hits, combined with a new heuristic for generating gapped alignments, yields a gapped BLAST program that runs at approximately three times the speed of the original.
Journal ArticleDOI

The Pfam protein families database

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

Identification of common molecular subsequences.

TL;DR: This letter extends the heuristic homology algorithm of Needleman & Wunsch (1970) to find a pair of segments, one from each of two long sequences, such that there is no other Pair of segments with greater similarity (homology).
Journal ArticleDOI

Sequence and organization of the human mitochondrial genome

TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
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The sequence of the human genome.

J. Craig Venter, +272 more
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