Analyses in 2011

Brian Oliver, Jason Lieb, Christine Disteche and colleagues present an analysis of expression data in mammals, C. elegans and Drosophila. They conclude that dosage compensation corrects the imbalance in the number of X chromosomes relative to autosomes by upregulating X-linked genes in both males and females.

Amos Tanay and Eitan Yaffe report methods to correct biases in the Hi-C method for mapping chromosomal contacts on a genome-wide scale. Their analysis of Hi-C data shows interchromosomal aggregation of hypersensitive sites, transcriptionally active foci and other epigenetic markers of active chromatin.

Peter Visscher and colleagues report an analysis to partition the genetic variation for several complex traits onto chromosome segments and find that the variation explained is approximately proportional to the total length of genes included within a chromosome segment. They estimate that ~45%, ~17%, ~25% and ~21% of the phenotypic variation, respectively, for height, body mass index, von Willebrand factor and QT interval is tagged by common SNPs, and they partition this variation by chromosome and chromosome segments.

George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a disease, applied here to hemoglobinopathies and thalassemias. They developed a series of connected locus-specific databases that document genotype and phenotype information for genetic variation in 37 globin and erythroid protein genes in individuals with globin disorders, with reciprocal attribution to data contributors.