Archive for the 'SciLit' Category

Lalonde E*, Ishkanian AS*, ….P’ng C, Collins CC, Squire JA, Jurisica I, Cooper C, Eeles R, Pintilie M, Dal Pra A, Davicioni E, Lam WL, Milosevic M, Neal DE, van der Kwast T, Boutros PC, Bristow RG (2014) “Tumour genomic a nd microenvironmental heterogeneity as integrated predictors for prostate cancer recurrence: a retrospective study” La ncet Oncology 15(13):1521-1532 (PMID: 25456371)

May 17, 2016

Genomic & microenvironmental heterogeneity as integrated predictors for prostate #cancer recurrence
http://www.ncbi.nlm.nih.gov/pubmed/25456371 CNVs & hypoxia

* Lalonde E*, Ishkanian AS*, ….P’ng C, Collins CC, Squire JA, Jurisica I, Cooper C, Eeles R, Pintilie M, Dal Pra A, Davicioni E, Lam WL, Milosevic M, Neal DE, van der Kwast T, Boutros PC, Bristow RG (2014) “Tumour genomic and microenvironmental heterogeneity as integrated predictors for prostate cancer recurrence: a retrospective study” Lancet Oncology 15(13):1521-1532 (PMID: 25456371)

The novelty of the paper is that it is the first study integrating DNA-based signatures and microenviroment-based signature for cancer prognosis. The authors found four prognostic indices, i.e. cancer genomic subtype (generated from clusters of CNV profiles), genomic instability (represented by the percentage of genome alteration), DNA signature (276 genes identified from random forests), and tumor hypoxia (the microenvironment signature), to be effective in predicting patient survival in different groups. Standard clinical univariate and multivariate analyses were performed.

Timing, rates and spectra of human germline mutation : Nature Genetics : Nature Publishing Group

May 17, 2016

Timing, rates & spectra of human germline mutation
http://www.nature.com/ng/journal/v48/n2/full/ng.3469.html Metaanalysis of >6500 events gives a de novo mutational signature

Cancer immunotherapy. A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells. – PubMed – NCBI

May 14, 2016

http://www.ncbi.nlm.nih.gov/pubmed/25837513

proovread: large-scale high-accuracy PacBio correction through iterative short read consensus

May 14, 2016

http://bioinformatics.oxfordjournals.org/content/30/21/3004.long

Cell lineage analysis in human brain using endogenous retroelements. – PubMed – NCBI

May 7, 2016

Cell-lineage analysis in human #brain using endogenous retroelements http://www.cell.com/neuron/abstract/S0896-6273(14)01137-4 Tracing L1 insertions w/ #singlecell sequencing

Using single cell WGS of 16 neuronal cells the authors investigated two somatic insertions of L1Hs elements in an adult human brain. Using these results the authors infer that L1 somatic insertions are infrequent and ALUs and SVAs somatic retrotransposition are extremely rare. Assessing two L1Hs insertions in 32 samples across different regions of this same adult brain, they found that while one insertion was spatially restricted (2x1cm region), the other was found across all samples of the adult brain (but not found in other tissues such as Heart, Lung, etc.). The more restricted one (L1Hs#1) is inferred to have happened during the Fetal stage (first trimester) while the broader one happened earlier, approximately 2 weeks
post-fertilization. Overall the paper is clear, concise, and simple. It answers an interesting biological question: Can retrotransposition be used as a marker of cell clonal expansion? It does, although the retrotransposition frequency is very small and SNVs might support better results for the same analysis due to their higher frequency..

Identification of significantly mutated regions across cancer types highlights a rich landscape of functional molecular alterations : Nature Genetics : Nature Publishing Group

May 2, 2016

Identification of [872] sig. mutated regions across #cancer types http://www.nature.com/ng/journal/v48/n2/full/ng.3471.html ranges from noncoding annotations to 3D structure

Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences: Cell

April 24, 2016

Learning the…Determinants of Alternative #Splicing [in a largely linear model] from Millions of Random Sequences
http://www.cell.com/cell/abstract/S0092-8674(15)01271-4

** Rosenberg et al Cell. 2015

Builds a model of splicing using a library of randomized sequence Also, builds a generalized model for predicting effect of a SNP in the Geuvadis RNAseq
7mer model does well with lots of data

Protein folds recognized by an intelligent predictor based-on evolutionary and structural information – Cheung – 2015 – Journal of Computational Chemistry – Wiley Online Library

April 17, 2016

Fold [class] recognized by an…[NN] predictor based-on evolutionary & structural info., w/ particle-swarm training
http://onlinelibrary.wiley.com/doi/10.1002/jcc.24232/full

Ngaam J. Cheung,
Xue-Ming Ding,
Hong-Bin Shen

First published: 27 October 2015
DOI: 10.1002/jcc.24232

Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer | Genome Biology | Full Text

April 17, 2016

two papers for journal club:

1. What are super-enhancers? Pott et al., Nature Genetics (2015) http://www.nature.com/ng/journal/v47/n1/full/ng.3167.html

2. Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer, Heyn et al., Genome Biology (2016)
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0879-2

#Epigenomic analysis detects aberrant super-enhancer DNA methylation in human #cancer
https://GenomeBiology.biomedcentral.com/articles/10.1186/s13059-016-0879-2 hypo-Me of many large blocks

MicroRNA silencing for cancer therapy targeted to the tumour microenvironment : Nature : Nature Publishing Group

April 8, 2016

miRNA silencing for…therapy targeted to the [acidic] tumor microenviron., w/ #pHLIP
http://www.nature.com/nature/journal/v518/n7537/abs/nature13905.html miR-155 moves beyond biomarker