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
Zhou, J. and Troyanskaya, O.G. (2015). Predicting effects of noncoding variants with deep learning–based sequence model. Nature Methods, 12, 931–934.
Predicting (& prioritizing) effects of noncoding variants w. [DeepSEA] #DeepLearning…model
https://www.Nature.com/nmeth/journal/v12/n10/full/nmeth.3547.html Trained w #ENCODE data
PredictSNP2: A Unified Platform http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004962 Ensembles many scores for the impact of non-coding variants, including #FunSeq
PETModule…enhancer-target-gene prediction
http://www.nature.com/articles/srep30043 Compares activity
correlations against a Hi-C/ChIA-PET gold std.
GERV: stats method for generative evaluation of regulatory variants
for TF binding http://bioinformatics.oxfordjournals.org/content/early/2015/11/05/bioinformatics.btv565 Predicts effect of #allelic SNPs
GERV: a statistical method for generative evaluation of regulatory ariants for transcription factor binding
> Haoyang Zeng
> Tatsunori Hashimoto
> Daniel D. Kang
> David K. Gifford
Basset: #DeepLearning the regulatory code w/…NNs by @noncodarnia lab http://genome.cshlp.org/content/early/2016/05/03/gr.200535.115 Has score for all possible SNVs in the genome
“Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks”
http://bioinformatics.oxfordjournals.org/content/early/2015/11/05/bioinformatics.btv565
GERV: a statistical method for generative evaluation of regulatory variants for transcription factor binding
Haoyang Zeng
Tatsunori Hashimoto
Daniel D. Kang
David K. Gifford
Human & 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
Massively 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.