scholarly journals Advances in genome-wide RNAi cellular screens: a case study using the Drosophila JAK/STAT pathway

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 506 ◽  
Author(s):  
Katherine H Fisher ◽  
Victoria M Wright ◽  
Amy Taylor ◽  
Martin P Zeidler ◽  
Stephen Brown
Keyword(s):  
2019 ◽  
Vol 35 (21) ◽  
pp. 4469-4471 ◽  
Author(s):  
Kristoffer Vitting-Seerup ◽  
Albin Sandelin

Abstract Summary Alternative splicing is an important mechanism involved in health and disease. Recent work highlights the importance of investigating genome-wide changes in splicing patterns and the subsequent functional consequences. Current computational methods only support such analysis on a gene-by-gene basis. Therefore, we extended IsoformSwitchAnalyzeR R library to enable analysis of genome-wide changes in specific types of alternative splicing and predicted functional consequences of the resulting isoform switches. As a case study, we analyzed RNA-seq data from The Cancer Genome Atlas and found systematic changes in alternative splicing and the consequences of the associated isoform switches. Availability and implementation Windows, Linux and Mac OS: http://bioconductor.org/packages/IsoformSwitchAnalyzeR. Supplementary information Supplementary data are available at Bioinformatics online.


2009 ◽  
Vol 238 (9) ◽  
pp. 2235-2253 ◽  
Author(s):  
Maria Sol Flaherty ◽  
Jiri Zavadil ◽  
Laura A. Ekas ◽  
Erika A. Bach

2019 ◽  
Author(s):  
Amy L Cochran ◽  
Kenneth Nieser ◽  
Daniel B Forger ◽  
Sebastian Zöllner ◽  
Melvin G McInnis

AbstractGene-set analyses measure the association between a disease of interest and a set of genes related to a biological pathway. These analyses often incorporate gene network properties to account for the differential contributions of each gene. Extending this concept further, mathematical models of biology can be leveraged to define gene interactions based on biophysical principles by predicting the effects of genetic perturbations on a particular downstream function. We present a method that combines gene weights from model predictions and gene ranks from genome-wide association studies into a weighted gene-set test. Using publicly-available summary data from the Psychiatric Genetics Consortium (n=41,653; ~9) million SNPs), we examine an a priori hypothesis that intracellular calcium ion concentrations contribute to bipolar disorder. In this case study, we are able to strengthen inferences from a P-value of 0.081 to 1.7×10−4 by moving from a general calcium signaling pathway to a specific model-predicted function.


2021 ◽  
pp. 100229
Author(s):  
Sunita Kumari ◽  
Vivek Kumar ◽  
Kathleen Beilsmith ◽  
Samuel M D Seaver ◽  
Shane Canon ◽  
...  

2020 ◽  
Vol 375 (1806) ◽  
pp. 20190534 ◽  
Author(s):  
Peter J. Meyers ◽  
Meredith M. Doellman ◽  
Gregory J. Ragland ◽  
Glen R. Hood ◽  
Scott P. Egan ◽  
...  

Studies assessing the predictability of evolution typically focus on short-term adaptation within populations or the repeatability of change among lineages. A missing consideration in speciation research is to determine whether natural selection predictably transforms standing genetic variation within populations into differences between species. Here, we test whether and how host-related selection on diapause timing associates with genome-wide differentiation during ecological speciation by comparing ancestral hawthorn and newly formed apple-infesting host races of Rhagoletis pomonella to their sibling species Rhagoletis mendax that attacks blueberries. The associations of 57 857 single nucleotide polymorphisms in a diapause genome-wide-association study (GWAS) on the hawthorn race strongly predicted the direction and magnitude of genomic divergence among the three fly populations at a field site in Fennville, MI, USA. The apple race and R. mendax show parallel changes in the frequencies of putative inversions on three chromosomes associated with the earlier fruiting times of apples and blueberries compared to hawthorns. A diapause GWAS on R. mendax revealed compensatory changes throughout the genome accounting for the earlier eclosion of blueberry, but not apple flies. Thus, a degree of predictability, although not complete, exists in the genomics of diapause across the ecological speciation continuum in Rhagoletis . The generality of this result is placed in the context of other similar systems. This article is part of the theme issue ‘Towards the completion of speciation: the evolution of reproductive isolation beyond the first barriers'.


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