Exome sequencing and the genetic basis of complex traits

A Kiezun, K Garimella, R Do, NO Stitziel, BM Neale… - Nature …, 2012 - nature.com
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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 …

Initial sequence of the chimpanzee genome and comparison with the human genome

… Sequencing and Analysis Consortium Waterson Robert … - Nature, 2005 - nature.com
Here we present a draft genome sequence of the common chimpanzee (Pan troglodytes).
Through comparison with the human genome, we have generated a largely complete …

Drosophila dFOXO controls lifespan and regulates insulin signalling in brain and fat body

DS Hwangbo, B Gersham, MP Tu, M Palmer, M Tatar - Nature, 2004 - nature.com
In Drosophila melanogaster, ageing is slowed when insulin-like signalling is reduced: life
expectancy is extended by more than 50% when the insulin-like receptor (InR) or its receptor …

High guanine and cytosine content increases mRNA levels in mammalian cells

G Kudla, L Lipinski, F Caffin, A Helwak, M Zylicz - PLoS biology, 2006 - journals.plos.org
Mammalian genes are highly heterogeneous with respect to their nucleotide composition,
but the functional consequences of this heterogeneity are not clear. In the previous studies …

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 …

Elevated gene expression levels distinguish human from non-human primate brains

M Cáceres, J Lachuer, MA Zapala… - Proceedings of the …, 2003 - National Acad Sciences
Little is known about how the human brain differs from that of our closest relatives. To
investigate the genetic basis of human specializations in brain organization and cognition …

Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios

AG Clark, S Glanowski, R Nielsen, PD Thomas… - Science, 2003 - science.org
Even though human and chimpanzee gene sequences are nearly 99% identical, sequence
comparisons can nevertheless be highly informative in identifying biologically important …

Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity

SA Shabalina, NA Spiridonov… - Nucleic acids research, 2013 - academic.oup.com
Messenger RNA is a key component of an intricate regulatory network of its own. It
accommodates numerous nucleotide signals that overlap protein coding sequences and are …

Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals

JV Chamary, LD Hurst - Genome biology, 2005 - Springer
Background In mammals, contrary to what is usually assumed, recent evidence suggests
that synonymous mutations may not be selectively neutral. This position has proven …