Towards a comprehensive catalogue of validated and target-linked human enhancers

M Gasperini, JM Tome, J Shendure - Nature Reviews Genetics, 2020 - nature.com
The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

The distribution of fitness effects of new mutations

A Eyre-Walker, PD Keightley - Nature Reviews Genetics, 2007 - nature.com
The distribution of fitness effects (DFE) of new mutations is a fundamental entity in genetics
that has implications ranging from the genetic basis of complex disease to the stability of the …

Initial sequencing and comparative analysis of the mouse genome

European Bioinformatics Institute: Birney Ewan 3 … - Nature, 2002 - nature.com
The sequence of the mouse genome is a key informational tool for understanding the
contents of the human genome and a key experimental tool for biomedical research. Here …

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

A Siepel, G Bejerano, JS Pedersen… - Genome …, 2005 - genome.cshlp.org
We have conducted a comprehensive search for conserved elements in vertebrate
genomes, using genome-wide multiple alignments of five vertebrate species (human …

A haplotype map of the human genome

… Consortium Altshuler David altshuler@ molbio. mgh … - Nature, 2005 - nature.com
Inherited genetic variation has a critical but as yet largely uncharacterized role in human
disease. Here we report a public database of common variation in the human genome: more …

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Project management: Fulton Lucinda A. 1 Mardis … - Nature, 2004 - nature.com
We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the
chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to …

Ultraconserved elements in the human genome

G Bejerano, M Pheasant, I Makunin, S Stephen… - Science, 2004 - science.org
There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved
(100% identity with no insertions or deletions) between orthologous regions of the human …

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

University of Utah Weiss Robert B. 14 Dunn Diane M … - Nature, 2004 - nature.com
The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine
and drug development, having made inestimable contributions to human health. We report …

Distribution and intensity of constraint in mammalian genomic sequence

GM Cooper, EA Stone, G Asimenos, ED Green… - Genome …, 2005 - genome.cshlp.org
Comparisons of orthologous genomic DNA sequences can be used to characterize regions
that have been subject to purifying selection and are enriched for functional elements. We …

The genetic signatures of noncoding RNAs

JS Mattick - PLoS genetics, 2009 - journals.plos.org
The majority of the genome in animals and plants is transcribed in a developmentally
regulated manner to produce large numbers of non–protein-coding RNAs (ncRNAs), whose …