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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

Population stratification and spurious allelic association.

Lon R. Cardon, +2 more
- 15 Feb 2003 - 
TL;DR: Past evidence for population stratification on genotype-phenotype association studies is discussed, methods to detect and account for it are reviewed, and suggestions for future study design and analysis are presented.
Journal ArticleDOI

Applied bioinformatics for the identification of regulatory elements

Wyeth W. Wasserman, +1 more
- 01 Apr 2004 - 
TL;DR: The purpose and mechanisms of the leading algorithms, with a particular emphasis on metazoan sequence analysis, are introduced and key issues that users should take into consideration in interpreting the results are identified.
Journal ArticleDOI

Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution

Jill Cheng, +18 more
- 20 May 2005 - 
TL;DR: The transcribed portions of the human genome are predominantly composed of interlaced networks of both poly A+ and poly A– annotated transcripts and unannotated transcripts of unknown function, which has important implications for interpreting genotype-phenotype associations, regulation of gene expression, and the definition of a gene.
Journal ArticleDOI

GMD@CSB.DB: the Golm Metabolome Database

Joachim Kopka, +12 more
- 15 Apr 2005 - 
TL;DR: GD, The Golm Metabolome Database is presented, an open access metabolome database, which provides public access to custom mass spectral libraries, metabolite profiling experiments as well as additional information and tools, e.g. with regard to methods, spectral information or compounds.
Journal ArticleDOI

The EMBL Nucleotide Sequence Database

Tamara Kulikova, +29 more
- 01 Jan 2004 - 
TL;DR: Changes over the past year include the removal of the sequence length limit, the launch of the EMBLCDSs dataset, extension of the Sequence Version Archive functionality and the revision of quality rules for TPA data.
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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