Archive for the ‘SciLit’ Category

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. – PubMed – NCBI

Monday, July 10th, 2017

https://www.ncbi.nlm.nih.gov/pubmed/24267886

Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

Willsey AJ1, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW.

Using brainspan to see where ASD genes are enriched in certain developmental times

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

Monday, July 10th, 2017

http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003671

TADA tool, integrates evidence

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
Xin He,
Stephan J. Sanders,
Li Liu,
Silvia De Rubeis,
Elaine T. Lim,
James S. Sutcliffe,
Gerard D. Schellenberg,
Richard A. Gibbs,
Mark J. Daly,
Joseph D. Buxbaum,
Matthew W. State,
Bernie Devlin,
Kathryn Roeder

logo.plos.95.png

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways : Nature Neuroscience : Nature Research

Monday, July 10th, 2017

https://www.nature.com/neuro/journal/v18/n2/full/nn.3922.html
older stats approach

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways : Nature Neuroscience : Nature Research

A comprehensive review of genetic association studies. – PubMed – NCBI

Monday, July 10th, 2017

https://www.ncbi.nlm.nih.gov/pubmed/11882781

QT:{{"
We find that over 600 positive associations between common gene variants and disease have been reported; these associations, if correct, would have tremendous importance for the prevention, prediction, and treatment of most common diseases. However, most reported associations are not robust: of the 166 putative associations which have been studied three or more times, only 6 have been consistently replicated.

"}}

Searching for missing heritability: Designing rare variant association studies

Monday, July 10th, 2017

http://www.pnas.org/content/111/4/E455.abstract

Genetic architectures of psychiatric disorders: the emerging picture and its implications. – PubMed – NCBI

Monday, July 10th, 2017

https://www.ncbi.nlm.nih.gov/pubmed/22777127
has a nice plot showing heritability of these conditions

promoter/enhancer categorization and Encyclopedia

Saturday, July 1st, 2017

Genome-wide characterization of..promoters w…enhancer functions http://www.Nature.com/ng/journal/v49/n7/full/ng.3884.html Blurs distinction betw these, suggests flexibility

Genome-wide characterization of mammalian promoters with distal enhancer functions

Lan T M Dao,
Ariel O Galindo-Albarrán,
Jaime A Castro-Mondragon,
Charlotte Andrieu-Soler,
Alejandra Medina-Rivera,
Charbel Souaid,
Guillaume Charbonnier,
Aurélien Griffon,
Laurent Vanhille,
Tharshana Stephen,
Jaafar Alomairi,
David Martin,
Magali Torres,
Nicolas Fernandez,
Eric Soler,
Jacques van Helden,
Denis Puthier
& Salvatore Spicuglia

Promoting transcription over long distances

Rui R Catarino,
Christoph Neumayr
& Alexander Stark

Nature Genetics 49, 972–973 (2017) doi:10.1038/ng.3904
28 June 2017

http://www.nature.com/ng/journal/v49/n7/full/ng.3884.html

http://www.nature.com/ng/journal/v49/n7/full/ng.3904.html

QT:{{”
“Should we be surprised that promoters can function as enhancers—or better—that enhancers and promoter regions can overlap? Probably not: the habit of annotating different genomic regions with distinct labels ignores the fact that DNA sequences typically encode different genetic functions in a rather flexible manner. Enhancers and promoters are determined by the presence of short degenerate motifs, and even protein-coding regions display flexibility due to the degeneracy of the genetic code. Therefore, a single DNA sequence can encode different types of functions, including enhancer function of protein-coding regions or—as shown now—enhancer function of
promoters.”
“}}

Single Cell Analysis paper

Friday, June 30th, 2017

http://genome-tech.ucsd.edu/public/Lake_Science_2016/
https://twitter.com/mikejg84/status/880240608144531456

16 Neuronal subtypes & [inter-regional] diversity revealed by [#singlecell]-nucleus RNAseq of…the brain
http://science.sciencemag.org/content/352/6293/1586.long

Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain.
Lake BB, Ai R, Kaeser GE, Salathia NS, Yung YC, Liu R, Wildberg A, Gao D, Fung HL, Chen S, Vijayaraghavan R, Wong J, Chen A, Sheng X, Kaper F, Shen R, Ronaghi M, Fan JB, Wang W, Chun J, Zhang K.
Science. 2016 Jun 24;352(6293):1586-90. doi: 10.1126/science.aaf1204.

A survey of human brain transcriptome diversity at the single cell level

Wednesday, June 28th, 2017

Brain #transcriptome diversity at the single cell level
http://www.PNAS.org/content/112/23/7285 Has useful gene-exp. profiles of specific neural cell types

has profiles for 185 biomarker genes for 6 cell types

Zika virus evolution and spread in the Americas : Nature : Nature Research

Monday, June 26th, 2017

http://www.nature.com/nature/journal/v546/n7658/full/nature22402.html

#Zika virus evolution & spread in the Americas, by @sabeti_lab http://www.Nature.com/nature/journal/v546/n7658/full/nature22402.html #Phylogeny reconstruction of 110 new + 64 known seqs.