Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

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

(2014) Martin Kircher et al.   NATURE GENETICS

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Defining functional DNA elements in the human genome

(2014) M. Kellis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants

(2013) Thomas A. Peterson et al.   JOURNAL OF MOLECULAR BIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Interpreting noncoding genetic variation in complex traits and human disease

(2012) Lucas D Ward et al.   NATURE BIOTECHNOLOGY

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Prediction of functional regulatory SNPs in monogenic and complex disease

(2011) Yiqiang Zhao et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Analysis of protein function and its prediction from amino acid sequence

(2011) Wyatt T. Clark et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

TATA box polymorphisms in human gene promoters and associated hereditary pathologies

(2009) L. K. Savinkova et al.   BIOCHEMISTRY-MOSCOW

Predicting functional regulatory polymorphisms

(2008) Ali Torkamani et al.   BIOINFORMATICS

Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies

(2008) B CHORLEY et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

In Silico Detection of Sequence Variations Modifying Transcriptional Regulation

(2008) Malin C. Andersen et al.   PLoS Computational Biology

Validating Discovered Cis-Acting Regulatory Genetic Variants: Application of an Allele Specific Expression Approach to HapMap Populations

(2008) Susana Campino et al.   PLoS One

Functional Characterization of Variations on Regulatory Motifs

(2008) Lapidot Michal et al.   PLoS Genetics