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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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Peptide and protein drug delivery to and into tumors: challenges and solutions.

TL;DR: Understanding of the mechanisms underlying the biological fate and biodistribution of protein and peptide drugs has advanced to the stage where methods that use or influence these mechanisms are now available, and new approaches to intracellular drug delivery, including the use of transduction proteins and peptides, are being developed.
Journal ArticleDOI

Target validation of G-protein coupled receptors.

TL;DR: G-protein coupled receptors represent possibly the most important target class of proteins for drug discovery and a major challenge for the pharmaceutical industry is to associate the many novel GPCRs with disease to identify the drugs of the future.
Journal ArticleDOI

Epigenetic modifications in pluripotent and differentiated cells

TL;DR: Although iPS cells appear molecularly and functionally similar to embryonic stem cells, more genome-wide studies are needed to define the extent and functions of epigenetic remodeling during reprogramming.
Journal ArticleDOI

The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus

TL;DR: It is estimated that the 7R allele arose prior to the upper Paleolithic era (approximately 40000-50000 years ago), and a model for selection at the DRD4 locus is proposed consistent with these observed LD patterns and with the known biochemical and physiological differences between receptor variants.
Journal ArticleDOI

Finding the missing honey bee genes: Lessons learned from a genome upgrade

Christine G. Elsik, +51 more
- 30 Jan 2014 - 
TL;DR: Improved honey bee genome assembly with a new gene annotation set and a number of genes similar to that of other insect genomes are reported, contrary to what was suggested in OGSv1.0.
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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