Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions

An integrated encyclopedia of DNA elements in the human genome

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An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

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What fraction of the human genome is functional?

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A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

The evolution of gene expression levels in mammalian organs

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Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project

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Ensembl 2012

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Three Periods of Regulatory Innovation During Vertebrate Evolution

(2011) C. B. Lowe et al.   SCIENCE

BEDTools: a flexible suite of utilities for comparing genomic features

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Massive turnover of functional sequence in human and other mammalian genomes

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A map of human genome variation from population-scale sequencing

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Discovery and characterization of chromatin states for systematic annotation of the human genome

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Reactome: a database of reactions, pathways and biological processes

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Five-Vertebrate ChIP-seq Reveals the Evolutionary Dynamics of Transcription Factor Binding

(2010) D. Schmidt et al.   SCIENCE

Identifying novel constrained elements by exploiting biased substitution patterns

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Human genetic variation recognizes functional elements in noncoding sequence

(2009) D. Lomelin et al.   GENOME RESEARCH

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hotspots of Biased Nucleotide Substitutions in Human Genes

(2009) Jonas Berglund et al.   PLOS BIOLOGY

Evolutionary Processes Acting on Candidate cis-Regulatory Regions in Humans Inferred from Patterns of Polymorphism and Divergence

(2009) Dara G. Torgerson et al.   PLoS Genetics

Widespread Genomic Signatures of Natural Selection in Hominid Evolution

(2009) Graham McVicker et al.   PLoS Genetics

Genome-wide nucleotide-level mammalian ancestor reconstruction

(2008) B. Paten et al.   GENOME RESEARCH

Transcription Factors Bind Thousands of Active and Inactive Regions in the Drosophila Blastoderm

(2008) Xiao-yong Li et al.   PLOS BIOLOGY