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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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Journal ArticleDOI

Sequencing the nuclear genome of the extinct woolly mammoth

Webb Miller, +21 more
- 20 Nov 2008 - 
TL;DR: This study shows that nuclear genome sequencing of extinct species can reveal population differences not evident from the fossil record, and perhaps even discover genetic factors that affect extinction.
Journal ArticleDOI

Unveiling the role of network and systems biology in drug discovery.

Albert Pujol, +4 more
- 01 Mar 2010 - 
TL;DR: It is claimed that network biology will play a central part in the development of novel polypharmacology strategies to fight complex multifactorial diseases, where efficacious therapies will need to center on altering entire pathways rather than single proteins.
Journal ArticleDOI

Protein modeling and structure prediction with a reduced representation.

Andrzej Kolinski
- 01 Jan 2004 - 
TL;DR: A new high resolution reduced model, its force field and applications in the structural proteomics is described and it is shown that the new approach goes beyond the range of applicability of the traditional methods of the protein comparative modeling.
Journal ArticleDOI

Enzyme activity profiles of the secreted and membrane proteome that depict cancer cell invasiveness

Nadim Jessani, +3 more
- 06 Aug 2002 - 
TL;DR: Results suggest that invasive cancer cells share discrete proteomic signatures that are more reflective of their biological phenotype than cellular heritage, highlighting that a common set of enzymes may support the progression of tumors from a variety of origins and thus represent attractive targets for the diagnosis and treatment of cancer.
Journal ArticleDOI

Human genome sequence variation and the influence of gene history, mutation and recombination.

David Reich, +9 more
- 05 Aug 2002 - 
TL;DR: The results are best explained by extreme variability in the recombination rate at a fine scale, and provide the first empirical evidence that such recombination 'hot spots' are a general feature of the human genome and have a principal role in shaping genetic variation in the human population.
References
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Journal ArticleDOI

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

Stephen F. Altschul, +6 more
- 01 Sep 1997 - 
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

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

Identification of common molecular subsequences.

Temple F. Smith, +1 more
- 25 Mar 1981 - 
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

Stephen Anderson, +17 more
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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