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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

RepeatModeler2 for automated genomic discovery of transposable element families.

Jullien M. Flynn, +6 more
- 28 Apr 2020 - 
TL;DR: This program brings substantial improvements over the original version of RepeatModeler, one of the most widely used tools for TE discovery, and incorporates a module for structural discovery of complete long terminal repeat (LTR) retroelements, which are widespread in eukaryotic genomes but recalcitrant to automated identification because of their size and sequence complexity.
Journal ArticleDOI

LINE-mediated retrotransposition of marked Alu sequences

Marie Dewannieux, +2 more
- 03 Aug 2003 - 
TL;DR: It is shown that the poly-A stretch at the Alu 3′ end is essential for mobility, that LINEs are required for transposition and that the rate of retroposition is 100–1,000 times higher for Alu transcripts than for control mRNAs, thus accounting for the high mutational activity of these elements observed in humans.
Journal ArticleDOI

On the classification of long non - coding RNAs

Lina Ma, +2 more
- 15 Apr 2013 - 
TL;DR: Classification methods of lncRNAs are summarized according to their four major features, namely, genomic location and context, effect exerted on DNA sequences, mechanism of functioning and their targeting mechanism, and the view on potential further studies.
Journal ArticleDOI

Retroviral DNA integration: ASLV, HIV, and MLV show distinct target site preferences.

Richard S. Mitchell, +7 more
- 17 Aug 2004 - 
TL;DR: Each of the three retroviruses studied showed unique integration site preferences, suggesting that virus-specific binding of integration complexes to chromatin features likely guides site selection.
Journal ArticleDOI

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

Jubao Duan, +6 more
- 01 Feb 2003 - 
TL;DR: Some synonymous mutations in the human DRD2 have functional effects and suggest a novel genetic mechanism, calling into question some assumptions made about synonymous variation in molecular population genetics and gene-mapping studies of diseases with complex inheritance, and indicate that synonymous variation can have effects of potential pathophysiological and pharmacogenetic importance.
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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