Initial sequencing and analysis of the human genome

…, C Elkin, EC Uberbacher, M Frazier, RA Gibbs… - 2001 -
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.

The genome sequence of Drosophila melanogaster

…, CR Nelson, GL Gabor, JF Abril, A Agbayani… - …, 2000 -
Abstract The fly Drosophila melanogaster is one of the most intensively studied organisms in
biology and serves as a model system for the investigation of many developmental and
cellular processes common to higher eukaryotes, including humans. We have determined

The international HapMap project

RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu… - 2003 -
The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in
the public domain. An international consortium is developing a map of these patterns across

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

…, GM Weinstock, RK Wilson, RA Gibbs… - Genome …, 2005 -
Abstract We have conducted a comprehensive search for conserved elements in vertebrate
genomes, using genome-wide multiple alignments of five vertebrate species (human,
mouse, rat, chicken, and Fugu rubripes). Parallel searches have been performed with

[HTML][HTML] Somatic mutations affect key pathways in lung adenocarcinoma

…, HE Varmus, SB Gabriel, ES Lander, RA Gibbs… - Nature, 2008 -
Abstract Determining the genetic basis of cancer requires comprehensive analyses of large
collections of histopathologically well-classified primary tumours. Here we report the results
of a collaborative study to discover somatic mutations in 188 human lung adenocarcinomas.

[HTML][HTML] Genome sequence of the Brown Norway rat yields insights into mammalian evolution

…, B Li, Y Liu, X Qin, S Cawley, AJ Cooney, RA Gibbs… - 2004 -
The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine
and drug development, having made inestimable contributions to human health. We report
here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a

The complete genome of an individual by massively parallel DNA sequencing

…, DM Muzny, M Margulies, GM Weinstock, RA Gibbs… - nature, 2008 -
Abstract The association of genetic variation with disease and drug response, and
improvements in nucleic acid technologies, have given great optimism for the impact of
'genomic medicine'. However, the formidable size of the diploid human genome 1,

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

JS Chamberlain, RA Gibbs, JE Rainer… - Nucleic acids …, 1988 -
Abstract The application of recombinant DNA technology to prenatal diagnosis of many
recessively inherited X-linked diseases is complicated by a high frequency of heterogenous,
new mutations (1). Partial gene deletions account for more than 50% of Duchenne muscular

[HTML][HTML] Patterns and rates of exonic de novo mutations in autism spectrum disorders

…, JD Buxbaum, EH Cook Jr, B Devlin, RA Gibbs… - Nature, 2012 -
Abstract Autism spectrum disorders (ASD) are believed to have genetic and environmental
origins, yet in only a modest fraction of individuals can specific causes be identified 1, 2. To
identify further genetic risk factors, we assess the role of de novo mutations in ASD by

[HTML][HTML] Characterizing the cancer genome in lung adenocarcinoma

…, WD Travis, W Pao, MA Rubin, SB Gabriel, RA Gibbs… - Nature, 2007 -
Abstract Somatic alterations in cellular DNA underlie almost all human cancers 1. The
prospect of targeted therapies 2 and the development of high-resolution, genome-wide
approaches 3–8 are now spurring systematic efforts to characterize cancer genomes. Here