The sequence of the human genome

JC Venter, MD Adams, EW Myers, PW Li, RJ Mural… - science, 2001 - science.org
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human
genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion …

Exploring the new world of the genome with DNA microarrays

PO Brown, D Botstein - Nature genetics, 1999 - nature.com
Thousands of genes are being discovered for the first time by sequencing the genomes of
model organisms, an exhilarating reminder that much of the natural world remains to be …

Initial sequencing and analysis of the human genome

US DOE Joint Genome Institute: Hawkins Trevor 4 … - Nature, 2001 - nature.com
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …

The human genome browser at UCSC

WJ Kent, CW Sugnet, TS Furey, KM Roskin… - Genome …, 2002 - genome.cshlp.org
As vertebrate genome sequences near completion and research refocuses to their analysis,
the issue of effective genome annotation display becomes critical. A mature web tool for …

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium - Nature, 2004 - nature.com
The sequence of the human genome encodes the genetic instructions for human
physiology, as well as rich information about human evolution. In 2001, the International …

Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

BE Baysal, RE Ferrell, JE Willett-Brozick, EC Lawrence… - Science, 2000 - science.org
Hereditary paraganglioma (PGL) is characterized by the development of benign,
vascularized tumors in the head and neck. The most common tumor site is the carotid body …

[HTML][HTML] Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes

MF McDermott, I Aksentijevich, J Galon, EM McDermott… - Cell, 1999 - cell.com
Autosomal dominant periodic fever syndromes are characterized by unexplained episodes
of fever and severe localized inflammation. In seven affected families, we found six different …

A hypercube-based encoding for evolving large-scale neural networks

KO Stanley, DB D'Ambrosio, J Gauci - Artificial life, 2009 - direct.mit.edu
Research in neuroevolution—that is, evolving artificial neural networks (ANNs) through
evolutionary algorithms—is inspired by the evolution of biological brains, which can contain …

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

JR Pollack, CM Perou, AA Alizadeh, MB Eisen… - Nature …, 1999 - nature.com
Gene amplifications and deletions frequently contribute to tumorigenesis. Characterization
of these DNA copy-number changes is important for both the basic understanding of cancer …

The DNA sequence of human chromosome 21

M Hattori, A Fujiyama, TD Taylor, H Watanabe, T Yada… - Nature, 2000 - nature.com
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes
Down syndrome, the most frequent genetic cause of significant mental retardation, which …