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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

NF-κB addiction and its role in cancer: ‘one size does not fit all’

TL;DR: Multiple mechanisms of NF-κB activation and their regulation by multitargeted agent in contrast to monotargeted agents are discussed, thus ‘one size does not fit all’ cancers.
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Retroposed new genes out of the X in Drosophila.

TL;DR: The pattern of origin of the genes created by retroposition in Drosophila was investigated and it was found that most of these X-derived autosomal retrogenes had evolved a testis expression pattern.
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Human genome sequencing in health and disease.

TL;DR: This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies.
Journal ArticleDOI

Racial Profiling in Medical Research

TL;DR: Two articles in this issue of the Journal deal with the treatment of heart failure in white and black patients and contend that enalapril, an angiotensin-converting–enzyme inhibitor, is more effective in whites than in blacks with left ventricular dysfunction.
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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