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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
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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 connection between splicing and cancer.

TL;DR: Alternative splicing is a crucial mechanism for generating protein diversity and could have a profound regulatory proteins that compromise the accuracy of either impact on human pathogenesis, in particular in tumor development and progression.
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BAC to the future: the use of bac transgenic mice for neuroscience research.

TL;DR: The development of methods for engineering bacterial artificial chromosomes, and for the efficient production of BAC transgenic mice, has allowed the design of in vivo approaches to the analysis of gene expression and function in the brain, which could not be accomplished using traditional methods.
Journal ArticleDOI

Protein tyrosine phosphatases: prospects for therapeutics.

TL;DR: Significant progress has been made in identifying small molecules that simultaneously bind both the active site and a unique adjacent site that enables specific inhibition of individual PTP isoenzymes, suggesting that PTP inhibitors may ultimately serve as powerful therapeutic weapons in the authors' arsenal for battling human diseases.
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.

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