Genotype to phenotype relationships in ASD http://www.nature.com/neuro/journal/v18/n2/abs/nn.3907.html Expression differences in #brain development for LOF-containing, M v F, &c
Also, netbag finds subnets assoc w autism
Posts Tagged ‘from’
Genotype to phenotype relationships in autism spectrum disorders : Nature Neuroscience : Nature Publishing Group
February 26, 2015Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq
February 21, 2015Human & mouse [mRNA] #methylomes revealed by m6A-seq http://www.nature.com/nature/journal/v485/n7397/full/nature11112.html Conservation across species & conditions (for most sites)
Dan Dominissini,
Sharon Moshitch-Moshkovitz,
Schraga Schwartz,
…
Rotem Sorek
& Gideon Rechavi
Nature 485, 201–206 (10 May 2012) doi:10.1038/nature11112
High-resolution mapping reveals a conserved, widespread, dynamic meiotically regulated mRNA methylation program
February 21, 2015High-res mapping reveals a conserved…mRNA methylation program http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956118/ Predicting methyl sites w/ seq., structure & position
Cell. 2013 Dec 5; 155(6): 1409–1421.
Published online 2013 Nov 21. doi: 10.1016/j.cell.2013.10.047 PMCID: PMC3956118
NIHMSID: NIHMS550466
High-resolution mapping reveals a conserved, widespread, dynamic meiotically regulated mRNA methylation program
Schraga Schwartz,1,* Sudeep D. Agarwala,2,* Maxwell R. Mumbach,1 Marko Jovanovic,1 Philipp Mertins,1 Alexander Shishkin,1 Yuval Tabach,3,4 Tarjei S Mikkelsen,1 Rahul Satija,1 Gary Ruvkun,3,4 Steven A. Carr,1 Eric S. Lander,1,5,6 Gerald R. Fink,1,2,8 and Aviv Regev 1,7,8
Automated analysis of high-throughput B-cell sequencing data reveals a high frequency of novel immunoglobulin V gene segment alleles
February 17, 2015Analysis of high-throughput B-cell sequencing
http://www.pnas.org/content/early/2015/02/05/1417683112.abstract Successful locus-level application of #personalgenome construction
wifi issues
February 13, 2015What makes art popular?
February 7, 2015What Makes Art Popular?…Luck & #Opinion of Others
http://www.fastcocreate.com/3027193/what-makes-art-popular-science-says-its-luck-and-the-opinion-of-others Author buys 15k copies of his book to create a bestseller
PLOS Genetics: A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations
February 7, 2015Massively Parallel Pipeline to Clone DNA Variants & Examine…Disease
Mutations http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004819 CloneSeq leverages NextGen sequencing
With the advance of sequencing technologies, tens of millions of genomic variants have been discovered in the human population. However, there is no available method to date that is capable of determining the functional impact of these variants on a large scale, which has increasingly become a huge bottleneck for the development of population genetics and personal genomics. Clone-seq and comparative interactome-profiling pipeline is a first to address this issue.
Can be coupled to many readouts.
Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Pooled association tests for rare variants in exon-resequencing studies. American Journal of Human Genetics (2010) 86: 832-838.
February 1, 2015Pooled association tests for rare variants in exon-resequencing http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032073 Simulation shows advantage of mult. rarity thresholds
Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ,
Sunyaev SR. Pooled association tests for rare variants in
exon-resequencing studies. American Journal of Human Genetics (2010)
86: 832-838.
SUMMARY
Multiple studies indicate strong association between rare variants and
resulting phenotype. This paper describes a population-genetics
simulation framework to study the influence of variant allele
frequency on the corresponding phenotype. In a prior study, causal
relationship between variants and phenotype was resolved by performing
association test on set of variants having allele frequency below a
fixed threshold. However, here it is observed that simulation
frameworks based on a variable allele frequency threshold provide
higher accuracy in association test compared to the fixed allele
frequency model. In addition, inclusion of predicted functional
effects of variants (Polyphen-2 scores) increases the accuracy of the
variable frequency threshold model. Overall, this paper describes a novel methodology, which can be
used to explore the association between rare variants and various
diseases.
Scratch – Imagine, Program, Share
January 31, 2015In Silver Case, U.S. Cites Link to Litigation Tied to Asbestos
January 30, 2015QT:{{”
n 2005, just as Mr. Silver’s referral income from the Weitz firm began to balloon, records show that he directed a state grant worth $250,000 to Dr. Taub for asbestos research, ostensibly related to the Sept. 11, 2001, terrorist attacks. In October 2006, Dr. Taub wrote to Mr. Silver to request another $250,000 grant. A few months later, the money arrived.
Both times, the plans submitted by Dr. Taub’s center said the money would go toward studying the general treatment of mesothelioma, making only passing reference to those who may have been exposed to asbestos after the attacks on the World Trade Center.
…
For his part, Dr. Taub served as an expert witness for the Weitz firm as recently as a 2013 case in federal court in Pennsylvania. Legal records show that his rate for working on the case was $1,750 per hour, plus $7,500 per day for testimony when overnight travel was required.
“}}
http://www.nytimes.com/2015/01/25/nyregion/sheldon-silvers-link-to-a-bonanza-and-a-cancer.html
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