Defining functional DNA elements in the human genome

M Kellis, B Wold, MP Snyder… - Proceedings of the …, 2014 - National Acad Sciences
With the completion of the human genome sequence, attention turned to identifying and
annotating its functional DNA elements. As a complement to genetic and comparative …

Common features of microRNA target prediction tools

SM Peterson, JA Thompson, ML Ufkin… - Frontiers in …, 2014 - frontiersin.org
The human genome encodes for over 1800 microRNAs (miRNAs), which are short non-
coding RNA molecules that function to regulate gene expression post-transcriptionally. Due …

A general framework for estimating the relative pathogenicity of human genetic variants

M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper… - Nature …, 2014 - nature.com
Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for …

The genomic substrate for adaptive radiation in African cichlid fish

D Brawand, CE Wagner, YI Li, M Malinsky, I Keller… - Nature, 2014 - nature.com
Cichlid fishes are famous for large, diverse and replicated adaptive radiations in the Great
Lakes of East Africa. To understand the molecular mechanisms underlying cichlid …

The evolution of lncRNA repertoires and expression patterns in tetrapods

A Necsulea, M Soumillon, M Warnefors, A Liechti… - Nature, 2014 - nature.com
Only a very small fraction of long noncoding RNAs (lncRNAs) are well characterized. The
evolutionary history of lncRNAs can provide insights into their functionality, but the absence …

Obesity-associated variants within FTO form long-range functional connections with IRX3

S Smemo, JJ Tena, KH Kim, ER Gamazon, NJ Sakabe… - Nature, 2014 - nature.com
Genome-wide association studies (GWAS) have reproducibly associated variants within
introns of FTO with increased risk for obesity and type 2 diabetes (T2D),,. Although the …

Comparative genomics reveals insights into avian genome evolution and adaptation

G Zhang, C Li, Q Li, B Li, DM Larkin, C Lee, JF Storz… - Science, 2014 - science.org
Birds are the most species-rich class of tetrapod vertebrates and have wide relevance
across many research fields. We explored bird macroevolution using full genomes from 48 …

[HTML][HTML] Genome sequencing highlights the dynamic early history of dogs

AH Freedman, I Gronau, RM Schweizer… - PLoS …, 2014 - journals.plos.org
To identify genetic changes underlying dog domestication and reconstruct their early
evolutionary history, we generated high-quality genome sequences from three gray wolves …

RBPmap: a web server for mapping binding sites of RNA-binding proteins

I Paz, I Kosti, M Ares Jr, M Cline… - Nucleic acids …, 2014 - academic.oup.com
Regulation of gene expression is executed in many cases by RNA-binding proteins (RBPs)
that bind to mRNAs as well as to non-coding RNAs. RBPs recognize their RNA target via …

A highly conserved program of neuronal microexons is misregulated in autistic brains

M Irimia, RJ Weatheritt, JD Ellis, NN Parikshak… - Cell, 2014 - cell.com
Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However,
which of the myriad of detected AS events provide important biological functions is not well …