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 …

Hearing silence: non-neutral evolution at synonymous sites in mammals

JV Chamary, JL Parmley, LD Hurst - Nature Reviews Genetics, 2006 - nature.com
Although the assumption of the neutral theory of molecular evolution—that some classes of
mutation have too small an effect on fitness to be affected by natural selection—seems …

Searching for missing heritability: designing rare variant association studies

O Zuk, SF Schaffner, K Samocha… - Proceedings of the …, 2014 - National Acad Sciences
Genetic studies have revealed thousands of loci predisposing to hundreds of human
diseases and traits, revealing important biological pathways and defining novel therapeutic …

The QTN program and the alleles that matter for evolution: all that's gold does not glitter

MV Rockman - Evolution, 2012 - academic.oup.com
The search for the alleles that matter, the quantitative trait nucleotides (QTNs) that underlie
heritable variation within populations and divergence among them, is a popular pursuit. But …

[KNJIGA][B] El origen de las especies

C Darwin - 2025 - books.google.com
Publicado en 1859, El origen de las especies de Charles Darwin llegó a ser conocido
como" el libro que sacudió al mundo". Su primera edición se agotó el primer día y lo mismo …

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

GV Kryukov, LA Pennacchio, SR Sunyaev - The American Journal of …, 2007 - cell.com
The accumulation of mildly deleterious missense mutations in individual human genomes
has been proposed to be a genetic basis for complex diseases. The plausibility of this …

Accelerated evolution of conserved noncoding sequences in humans

S Prabhakar, JP Noonan, S Paabo, EM Rubin - science, 2006 - science.org
Changes in gene regulation likely influenced the profound phenotypic divergence of
humans from other mammals, but the extent of adaptive substitution in human regulatory …

Ultraconserved enhancer function does not require perfect sequence conservation

V Snetkova, AR Ypsilanti, JA Akiyama, BJ Mannion… - Nature …, 2021 - nature.com
Ultraconserved enhancer sequences show perfect conservation between human and rodent
genomes, suggesting that their functions are highly sensitive to mutation. However, current …

Human genome ultraconserved elements are ultraselected

S Katzman, AD Kern, G Bejerano, G Fewell, L Fulton… - Science, 2007 - science.org
Ultraconserved elements in the human genome are defined as stretches of at least 200 base
pairs of DNA that match identically with corresponding regions in the mouse and rat …

Tug-of-war between driver and passenger mutations in cancer and other adaptive processes

CD McFarland, LA Mirny… - Proceedings of the …, 2014 - National Acad Sciences
Cancer progression is an example of a rapid adaptive process where evolving new traits is
essential for survival and requires a high mutation rate. Precancerous cells acquire a few …