Archive for the 'SciLit' Category

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

February 24, 2018

Genic Intolerance to Functional Variation & the Interpretation of Personal Genomes
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003709 Nice plot of the number of rare v common variants in each gene to find outliers particularly tolerant to impactful (eg #LOF) mutations

http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003709

Petrovski et al ’13

Credit scores, cardiovascular disease risk, and human capital | Proceedings of the National Academy of Sciences

February 20, 2018

Credit scores, cardiovascular disease risk & human capital
http://www.PNAS.org/content/111/48/17087 Non-obvious correlations creating potential #privacy risks

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

February 11, 2018

http://science.sciencemag.org/content/359/6376/693.full
+
perspective
http://science.sciencemag.org/content/359/6376/619.full

Gene Expression Overlaps Among Psychiatric Disorders

Transcriptional profiling of post-mortem human brains reveals commonalities in the genes over- and under-expressed in schizophrenia, bipolar disorder, autism, and major depression.

Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma | Nature Genetics

February 11, 2018

https://www.nature.com/articles/ng.3861?WT.ec_id=NG-201706&spMailingID=54145295&spUserID=MTc2NTYxNjY4OQS2&spJobID=1164335784&spReportId=MTE2NDMzNTc4NAS2

JClub by BW on “3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets”, Genome Medicine

February 4, 2018

3D clusters of somatic mutations…reveal numerous rare mutations as functional targets
https://GenomeMedicine.BiomedCentral.com/articles/10.1186/s13073-016-0393-x Introduces 3DHotSpots, which is one of a number of recent approaches (incl. CLUMPS, Hotspot3D, Mutation3D & HotMAPS) for finding groupings of somatic SNVs via structure

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

January 6, 2018

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in #eQTL Studies http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1000770 Early discussion & development of PEER factors

Cutting Edge: Building bridges between cellular and molecular structural biology

December 22, 2017

Cutting Edge: Building bridges between cellular & mol. structural biology https://ELIFEsciences.org/articles/25835 quote: “The use of structured biological #annotation is not common practice in
#cryoEM…[but] by the end of the meeting there was a clearer appreciation of the importance of [this]”

QT:{{”
As previously explained, structured biological annotation is the association of data with identifiers and ontologies taken from well-established bioinformatics resources. The use of structured biological annotation is not common practice in the electron microscopy or structural biology communities. Therefore, ontology experts were invited to the workshop to explain why these are useful and what resources and tools are available for assigning annotations. Use-cases such as mouse imaging data helped to explain the principles and practice of structured biological annotation. By the end of the meeting there was a clearer appreciation of the importance of structured biological annotation for searching and linking imaging data across different scales, between different imaging and structural databases and with other bioinformatics resources.”
“}}

Cryo-EM Structures of the Magnesium Channel CorA Reveal Symmetry Break upon Gating – ScienceDirect

November 30, 2017

QT:{{”
• Find 3.8 Å resolution cryo-EM structure of the ∼200 kDa magnesium channel CorA • Mg2+-free CorA exhibits dramatic loss of symmetry in the cytoplasmic domain …
• Inter-subunit Mg2+ is important for stabilizing the closed state of CorA “}}

#CryoEM Structures of the Mg++ Channel CorA Reveal Symmetry Break upon Gating https://www.ScienceDirect.com/science/article/pii/S0092867415017195 In closed conformation: 5 identical subunits arranged tightly around 5-fold axis & pore. In open: they lose bridging ions & open to differing degrees with helix-hinging motions.

Matthies D1, Dalmas O2, Borgnia MJ1, Dominik PK2, Merk A1, Rao P1, Reddy BG2, Islam S2, Bartesaghi A1, Perozo E3, Subramaniam S4. Cell. 2016 Feb 11;164(4):747-56. doi: 10.1016/j.cell.2015.12.055.

differential privacy

November 29, 2017


Box 1 of the following paper has a nice definition for differential privacy in genomics sense (phenotypic differential privacy): http://www.cell.com/cell-systems/fulltext/S2405-4712(16)30121-1 “

Accurate Prediction of Contact Numbers for Multi-Spanning Helical Membrane Proteins

November 25, 2017

Accurate Prediction of Contact Numbers for Multi-Spanning Helical #MembraneProteins – via #NeuralNetwork w/ dropout
http://pubs.ACS.org/doi/abs/10.1021/acs.jcim.5b00517 In turn, this can enable accurate prediction of the rotation of TM helices & then the 3D #StructurePrediction of the whole protein