Project description:We conducted comparative genome hybridization experiments to catalogue the common copy number variation evident between 269 individuals from three geographically distinct human populations (Yoruban, Chinese/Japanese, European) against a single reference individual.
Project description:In this experiment we catalogue temporal variation in transcription occurring during IL1B stimulation under control (non-targeting siRNA control) conditions and partial MAP3K8 siRNA knockdown in the A549 cell line. We measure global gene transcription at 0, 1, 2, 4, 6, 8, and 12 hours using Affymetrix HuGene 1.1 ST array. Nineteen genes demonstrated a distinct temporal response to Il1B stimulation following suppression of MAP3K8.
Project description:The Mouse Genomes Project ( http://www.sanger.ac.uk/science/data/mouse-genomes-project ) uses using next-generation sequencing technologies to catalogue molecular variation in the common laboratory mouse strains, and a selected set of wild-derived inbred strains. Access to complete sequence of multiple inbred strains will add to these resources and will become a permanent foundation for a systems biology approach to phenotypic variation in the mouse. In this particular study, we have sequenced the transcriptome of whole-brain tissue from 16 laboratory mouse strains to examine differences in gene expression levels, differential RNA-editing, and for use in de novo gene prediction.
Project description:The noncoding regions of tumor cell genomes harbor a considerable fraction of total variation, but the functional contribution of such variants to tumorigenesis is ill-defined. Among these noncoding variants, somatic insertions are among the least well-characterized due to challenges with interpreting short-read DNA sequences. To address this, we have identified enhancer-associated small insertion variants across a spectrum of tumor cells by using ChIP-seq to enrich and sequence enhancer DNA, and a computational approach with multiple alignment procedures to identify small insertions. Among the 82 tumor genomes studied here, small insertions were frequently observed in enhancer DNA sequences located near known oncogenes. Further study of one such insertion, found in primary leukemia tumor genomes, revealed that it nucleates formation of an active enhancer that drives expression of the LMO2 oncogene. The catalogue of enhancer-associated small insertion variants described here provides a foundation for further investigating the functions of this class of variants across a range of human cancers.
Project description:We characterize the genetic diversity of Xenopus laevis strains using allele-specific RNA-seq data analysis and provide a catalogue of coding variation which can be used for improving the genomic sequence, as well as for better sequence alignment, probe design, and proteomic analysis. In addition, we paint a broad picture of the genetic landscape of the species by functionally annotating different classes of mutations with a well-established prediction tool (PolyPhen-2). Further, we specifically compare the variation in the progeny of a cross from the inbred genomic (J)-strain, a cross from the popular occasionally outbred albino (B)-strain, and two hybrid crosses. We use the comparison to identify a subset of mutations specific to the B-strain, which allows us to investigate the specific selection pressures affecting duplicated genes in this pseudo-tetraploid. We find the ratio of non-synonymous to synonymous mutations is lower in duplicated genes, which therefore appear to be under greater purifying selection. Surprisingly, we also find that function-altering ("damaging") mutations constitute a greater fraction of the non-synonymous variants in this group, which may suggest a role for subfunctionalization in coding variation affecting duplicated genes.