Beyond the human genome project: the age of complete human genome sequences and pangenome references

DJ Taylor, JM Eizenga, Q Li, A Das… - Annual review of …, 2024 - annualreviews.org
The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

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 …

The UCSC genome browser database: 2017 update

C Tyner, GP Barber, J Casper, H Clawson… - Nucleic acids …, 2017 - academic.oup.com
Since its 2001 debut, the University of California, Santa Cruz (UCSC) Genome Browser
(http://genome. ucsc. edu/) team has provided continuous support to the international …

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 …

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 …

[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 …

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 …

Compositional pattern producing networks: A novel abstraction of development

KO Stanley - Genetic programming and evolvable machines, 2007 - Springer
Natural DNA can encode complexity on an enormous scale. Researchers are attempting to
achieve the same representational efficiency in computers by implementing developmental …