scispace - formally typeset
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
Reads0
Chats0
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.

read more

Content maybe subject to copyright    Report

Citations
More filters
Journal ArticleDOI

Selection in the evolution of gene duplications

Fyodor A. Kondrashov, +3 more
- 14 Jan 2002 - 
TL;DR: It is hypothesized that gene duplications that persist in an evolving lineage are beneficial from the time of their origin, due primarily to a protein dosage effect in response to variable environmental conditions; duplications are likely to give rise to new functions at a later phase of their evolution once a higher level of divergence is reached.
Journal ArticleDOI

Limitations of next-generation genome sequence assembly

Can Alkan, +2 more
- 01 Jan 2011 - 
TL;DR: It is concluded that high-quality sequencing approaches must be considered in conjunction with high-throughput sequencing for comparative genomics analyses and studies of genome evolution.
Journal ArticleDOI

Proteomics: the first decade and beyond.

Scott D Patterson, +1 more
- 01 Mar 2003 - 
TL;DR: Proteomics and other complementary analysis methods are essential components of the emerging 'systems biology' approach that seeks to comprehensively describe biological systems through integration of diverse types of data and, in the future, to ultimately allow computational simulations of complex biological systems.
Journal ArticleDOI

Sequence information can be obtained from single DNA molecules

Ido Braslavsky, +3 more
- 01 Apr 2003 - 
TL;DR: These experiments show that one can study the activity of DNA polymerase at the single molecule level with single base resolution and a high degree of parallelization, thus providing the foundation for a practical single molecule sequencing technology.
Journal ArticleDOI

The complete sequence of a human genome

Sergey Koren, +6 more
- 01 Apr 2022 - 
TL;DR: The T2T-CHM13-T2T Consortium presented a complete 3.055 billion-base pair sequence of a human genome, including gapless assemblies for all chromosomes except Y, corrected errors in the prior references, and introduced nearly 200 million base pairs of sequence containing gene predictions, 99 of which are predicted to be protein coding as discussed by the authors .
References
More filters
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.
Related Papers (5)

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 

Basic Local Alignment Search Tool

Stephen F. Altschul, +4 more
- 01 Oct 1990 - 

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

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

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, +2 more
- 01 Dec 1977 - 

The Human Genome Browser at UCSC

W. James Kent, +6 more
- 01 Jun 2002 -