Difference between revisions of "Publications"

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* '''[http://onlinelibrary.wiley.com/doi/10.1002/humu.23185/full Predicting enhancer activity and variant impact using gkm-SVM.]''' Beer, MA.  Human Mutation 2017.
 
* '''[http://onlinelibrary.wiley.com/doi/10.1002/humu.23185/full Predicting enhancer activity and variant impact using gkm-SVM.]''' Beer, MA.  Human Mutation 2017.
  
* '''Predicting gene expression in massively parallel reporter assays: a comparative study.''' Kreimer A, Zeng H, Edwards M, Guo Y, Tian K, Shin S, Welch R, Wainberg M, Mohan R, Sinnott-Armstrong N, Li Y, Amin T, Goke J, Mueller N, Kellis, M, Kundaje A, Beer MA, Keles S, Gifford D, and Yosef, N. Human Mutation 2017.
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* '''[http://onlinelibrary.wiley.com/doi/10.1002/humu.23197/full Predicting gene expression in massively parallel reporter assays: A comparative study.]''' Kreimer A, Zeng H, Edwards M, Guo Y, Tian K, Shin S, Welch R, Wainberg M, Mohan R, Sinnott-Armstrong N, Li Y, Amin T, Goke J, Mueller N, Kellis, M, Kundaje A, Beer MA, Keles S, Gifford D, and Yosef, N. Human Mutation 2017.
  
* '''Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X.''' Migeon BR, Beer MA, and Bjornsson HT. Plos ONE 2017.
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* '''[http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170403 Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X.]''' Migeon BR, Beer MA, and Bjornsson HT. Plos ONE 2017.
  
 
* '''[http://bioinformatics.oxfordjournals.org/content/early/2016/05/05/bioinformatics.btw203 gkmSVM: an R package for gapped-kmer SVM.]''' [[Media:Bioinformatics-2016-Ghandi-bioinformatics-btw203.pdf|pdf]] [[Media:Tutorial.pdf|tutorial]] Ghandi, M, Mohammad-Noori M, Ghareghani N, Lee D, Garraway L, and Beer MA. Bioinformatics 2016.
 
* '''[http://bioinformatics.oxfordjournals.org/content/early/2016/05/05/bioinformatics.btw203 gkmSVM: an R package for gapped-kmer SVM.]''' [[Media:Bioinformatics-2016-Ghandi-bioinformatics-btw203.pdf|pdf]] [[Media:Tutorial.pdf|tutorial]] Ghandi, M, Mohammad-Noori M, Ghareghani N, Lee D, Garraway L, and Beer MA. Bioinformatics 2016.

Revision as of 00:18, 7 August 2017

  • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. 2009. Nat Genet. 41:739-45.



For a full list including my prior work in simulations of plasma turbulence, see my google scholar page.