The Personal Genome Project [PDF]
Mol Syst Biol. 1: 2005.0030 Large potential benefits for systems biology reside in applications to human health and identity. To develop our community's skills in these directions, ready access to highly integrated and comprehensive human genome and phenome data sets is extremely important and increasingly feasible technically.
openaire +4 more sources
The driver landscape of sporadic chordoma
Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations
Patrick S. Tarpey+31 more
doaj +1 more source
REAPR: a universal tool for genome assembly evaluation. [PDF]
Methods to reliably assess the accuracy of genome sequence data are lacking. Currently completeness is only described qualitatively and mis-assemblies are overlooked.
Berriman, Matthew+5 more
core +2 more sources
GENCODE: The reference human genome annotation for The ENCODE Project
The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.
J. Harrow+40 more
semanticscholar +1 more source
Complete Genome Sequences of vB_LmoS_188 and vB_LmoS_293, Two Bacteriophages with Specificity for Listeria monocytogenes Strains of Serotypes 4b and 4e [PDF]
peer-reviewedListeria monocytogenes is responsible for the rare disease listeriosis, which is associated with the consumption of contaminated food products. We report here the complete genome sequences of vB_LmoS_188 and vB_LmoS_293, phages isolated from
Casey, A.+3 more
core +1 more source
The Cancer Genome Anatomy Project: EST Sequencing and the Genetics of Cancer Progression
As the process of tumor progression proceeds from the normal cellular state to a preneoplastic condition and finally to the fully invasive form, the molecular characteristics of the cell change as well. These characteristics can be considered a molecular
David B. Krizman+4 more
doaj +1 more source
Genetic association of IL17 and the importance of ABO blood group antigens in saliva to COVID-19
The outbreak of COVID-19 caused by infection with SARS-CoV-2 virus has become a worldwide pandemic, and the number of patients presenting with respiratory failure is rapidly increasing in Japan.
Nao Nishida+16 more
doaj +1 more source
Update of the Gene Discovery Program in Schistosoma mansoni with the Expressed Sequence Tag Approach
Continuing the Schistosoma mansoni Genome Project 363 new templates were sequenced generating 205 more ESTs corresponding to 91 genes. Seventy four of these genes (81%) had not previously been described in S. mansoni.
Élida ML Rabelo+8 more
doaj +1 more source
From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]
As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core +1 more source
The Human Genome Project [PDF]
The Human Genome Project in the United States is now well underway. Its programmatic direction was largely set by a National Research Council report issued in 1988. The broad framework supplied by this report has survived almost unchanged despite an upheaval in the technology of genome analysis. This upheaval has primarily affected physical and genetic
B. J. F. Rossiter, Charles T. Caskey
openaire +6 more sources