Tools for sequence-based miRNA target prediction: what to choose?

ÁL Riffo-Campos, I Riquelme… - International journal of …, 2016 - mdpi.com
MicroRNAs (miRNAs) are defined as small non-coding RNAs~ 22 nt in length. They regulate
gene expression at a post-transcriptional level through complementary base pairing with the …

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

MF Rogers, HA Shihab, M Mort, DN Cooper… - …, 2018 - academic.oup.com
We present FATHMM-XF, a method for predicting pathogenic point mutations in the human
genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on …

Evolution of Darwin's finches and their beaks revealed by genome sequencing

S Lamichhaney, J Berglund, MS Almén, K Maqbool… - Nature, 2015 - nature.com
Darwin's finches, inhabiting the Galápagos archipelago and Cocos Island, constitute an
iconic model for studies of speciation and adaptive evolution. Here we report the results of …

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

L Frésard, C Smail, NM Ferraro, NA Teran, X Li… - Nature medicine, 2019 - nature.com
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …

The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons

I Braasch, AR Gehrke, JJ Smith, K Kawasaki… - Nature …, 2016 - nature.com
To connect human biology to fish biomedical models, we sequenced the genome of spotted
gar (Lepisosteus oculatus), whose lineage diverged from teleosts before teleost genome …

Highly contiguous assemblies of 101 drosophilid genomes

BY Kim, JR Wang, DE Miller, O Barmina, E Delaney… - Elife, 2021 - elifesciences.org
Over 100 years of studies in Drosophila melanogaster and related species in the genus
Drosophila have facilitated key discoveries in genetics, genomics, and evolution. While high …

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand… - Science, 2018 - science.org
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which is
translated into proteins. The “coding genome” describes the DNA that contains the …

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 …

[HTML][HTML] Improved pathogenicity prediction for rare human missense variants

Y Wu, H Liu, R Li, S Sun, J Weile, FP Roth - The American Journal of …, 2021 - cell.com
The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …

ERα is an RNA-binding protein sustaining tumor cell survival and drug resistance

Y Xu, P Huangyang, Y Wang, L Xue, E Devericks… - Cell, 2021 - cell.com
Estrogen receptor α (ERα) is a hormone receptor and key driver for over 70% of breast
cancers that has been studied for decades as a transcription factor. Unexpectedly, we …