Atlan (2006), "Genetics as explanation: limits to the human genome project", In Encyclopedia of Life Sciences, pp. 1-7. Wiley, New York.Cohen, I.R., Atlan, H., Efroni, S. (2009). Genetics as explanation: limits to the human genome project. Encyclopedia of Life Sciences [online],...
Thus, despite the vast amount of information generated by genome-scale experiments, most sequence determinants that drive the activity of human enhancers and promoters, and the interactions between them, remain unknown. Results Ultracomplex MPRAs with 100 times human genome coverage To systematically ...
Review Free EGASP: the human ENCODE Genome Annotation Assessment Project Roderic Guigó*,1,11, Paul Flicek*,2, Josep F Abril*,1, Alexandre Reymond3, Julien Lagarde1, France Denoeud1, Stylianos Antonarakis4, Michael Ashburner5,12, Vladimir B Bajic6,12, Ewan Birney2,11, Robert Castelo1,...
In our study, we aimed to investigate when and how the genetic patterns observed today were formed and test whether they have been present since prehistoric times by generating time-stamped human genome-wide data. We were also interested in characterizing the role of the Caucasus as a conduit f...
Variant file merging and filtering. Per-chromosome VCF files containing genotyping data for the samples analysed previously63were downloaded from the 1000 Genome project (ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20201028_3202_raw_GT_with_annot/)....
Wright, C. F. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet385, 1305–1314 (2015). ArticlePubMedPubMed CentralGoogle Scholar Riley, N. M. & Coon, J. J. Phosphoproteomics in the age of rapid and deep proteom...
(>90%). Segmental duplications should not be confused with simple genomic repeats which are present in higher copy number, are usually shorter, and have other mechanisms of propagation in a genome (Sup. Figure 1). In the human genome, the segmental duplications defined this way mostly comprise...
The A genome-wide survey of human short-term memory A Papassotiropoulos et al exclusion criteria were: visual or auditory impair- ments possibly limiting the cognitive evaluation, neurological disorders (for example, Parkinson Disease, seizures, transitory ischemic attacks, stroke, closed head injury ...
Although parental genomes undergo extensive epigenetic reprogramming to be equalized after fertilization, whether they play different roles in human zygotic genome activation (ZGA) remains unknown. Here, we mapped parental transcriptomes by using human p
Yet, these solutions are not applicable to premade read alignments (which are usually obtained with a simple reference genome) and hardly applicable to understudied cell types or particular samples that do not provide enough data to reconstruct an individual genome. In this work, we present a ...