Fast, scalable prediction of deleterious #noncoding variants from functional & population genomic data
https://www.Nature.com/articles/ng.3810 LINSIGHT, by @ASiepel et al., combines DNAse & conservation information
Yi-Fei Huang, Brad Gulko & Adam Siepel
Nature Genetics 49, 618–624 (2017)
doi:10.1038/ng.3810
Published online:
13 March 2017
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
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 http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1000770 Early discussion & development of PEER factors
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.
Links
https://linkstream2.gerstein.info/tag/i0rsg17
Tweets
https://storify.com/markgerstein/favorite-tweets-from-late-nov-17-meetings-ercc9-rs
Talks
http://lectures.gersteinlab.org/summary/Genomics-n-DataSci–20171108-i0isg/
More “Private” Notes
http://meetings.gersteinlab.org/2017/11.19/i0rsg17+i0exrna17/ http://meetings.gersteinlab.org/2017/11.12/i0isg-slides-green-talk/
LINKS
https://linkstream2.gerstein.info/tag/i0gi2017/
TWEETS
https://storify.com/markgerstein/favorite-tweets-from-genome-informatics-17-gi2017-
TALK
http://lectures.gersteinlab.org/summary/Mutations-in-2500-cancer-genomes–20171104-i0gi2017/
OTHER materials (passwd access) in
http://meetings.gersteinlab.org/2017/10.28/i0gi2017/
Links
https://linkstream2.gerstein.info/tag/i0hgvs
Tweets
https://storify.com/markgerstein/favorite-tweets-from-ashg17-ga4gh2017-genopri17-hg
Talks
http://lectures.gersteinlab.org/summary/Mutations-in-2500-cancer-genomes–20171018-i0hgvs+ashg/
http://lectures.gersteinlab.org/summary/Prioritizing-somatic-variants–20171017-i0hgvs+main/
Pics
Multistep nucleation of nanocrystals in…solution
http://www.Nature.com/nchem/journal/v9/n1/full/nchem.2618.html Creation of Au-Au pair, expelling water, drives cluster formation
QT:{{”
To explain how the gold-rich aqueous phase forms and breaks down in Figures 1A and 2A, we
performed ab-initio calculations of a hydrated gold atom pair (Figure 4). This hydrated atom pair
becomes ionized when brought closer together: the left gold atom plus two nearby water molecules
form a linear cationic coordination complex, [Au(H2O)2]+1, while the right gold atom becomes an
anion surrounded by a simple hydration shell. Other (square planar and linear) complexes involving
chloride and hydroxide ligands may also participate, depending on pH (26, 33) (Section SI2). For
nanoclusters to form inside the gold-rich aqueous phase, pairs of gold atoms within it must be partially
dehydrated. In our calculations (Figure 4), this dehydration is delayed by a 7.6 kcal/mol (12.9 kBT)
energy barrier required to breakdown the linear cationic complex (close to the gold anion).
“}}
Assembly-based inference of Bcell receptor repertoires from..RNAseq w/
V’DJer https://academic.OUP.com/bioinformatics/article/32/24/3729/2525640/Assembly-based-inference-of-B-cell-receptor Less diversity assoc w/ long survival