Genetic mapping in human disease

D Altshuler, MJ Daly, ES Lander - science, 2008 - science.org
Genetic mapping provides a powerful approach to identify genes and biological processes
underlying any trait influenced by inheritance, including human diseases. We discuss the …

Comparative genomics and molecular dynamics of DNA repeats in eukaryotes

GF Richard, A Kerrest, B Dujon - Microbiology and molecular …, 2008 - Am Soc Microbiol
Repeated elements can be widely abundant in eukaryotic genomes, composing more than
50% of the human genome, for example. It is possible to classify repeated sequences into …

Velvet: algorithms for de novo short read assembly using de Bruijn graphs

DR Zerbino, E Birney - Genome research, 2008 - genome.cshlp.org
We have developed a new set of algorithms, collectively called “Velvet,” to manipulate de
Bruijn graphs for genomic sequence assembly. A de Bruijn graph is a compact …

LTRharvest, an efficient and flexible software for de novo detection of LTR retrotransposons

D Ellinghaus, S Kurtz, U Willhoeft - BMC bioinformatics, 2008 - Springer
Background Transposable elements are abundant in eukaryotic genomes and it is believed
that they have a significant impact on the evolution of gene and chromosome structure …

Mouse ES cells express endogenous shRNAs, siRNAs, and other Microprocessor-independent, Dicer-dependent small RNAs

JE Babiarz, JG Ruby, Y Wang, DP Bartel… - Genes & …, 2008 - genesdev.cshlp.org
Canonical microRNAs (miRNAs) require two processing steps: the first by the
Microprocessor, a complex of DGCR8 and Drosha, and the second by a complex of TRBP …

Evolution of the mammalian transcription factor binding repertoire via transposable elements

G Bourque, B Leong, VB Vega, X Chen, YL Lee… - Genome …, 2008 - genome.cshlp.org
Identification of lineage-specific innovations in genomic control elements is critical for
understanding transcriptional regulatory networks and phenotypic heterogeneity. We …

Evolutionary conservation of human drug targets in organisms used for environmental risk assessments

L Gunnarsson, A Jauhiainen… - … science & technology, 2008 - ACS Publications
Pharmaceuticals are typically found in very low concentrations in the aquatic environment.
Accordingly, environmental effects clearly assigned to residual drugs are consistent with …

[HTML][HTML] SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

Z Zhang, F Lotti, K Dittmar, I Younis, L Wan, M Kasim… - Cell, 2008 - cell.com
The survival of motor neurons (SMN) protein is essential for the biogenesis of small nuclear
RNA (snRNA)-ribonucleoproteins (snRNPs), the major components of the pre-mRNA …

Patterns of positive selection in six mammalian genomes

C Kosiol, T Vinař, RR da Fonseca, MJ Hubisz… - PLoS …, 2008 - journals.plos.org
Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight
into the dynamics of genome evolution, the genetic basis of differences between species …

Genome analysis of the platypus reveals unique signatures of evolution

Nature, 2008 - nature.com
We present a draft genome sequence of the platypus, Ornithorhynchus anatinus. This
monotreme exhibits a fascinating combination of reptilian and mammalian characters. For …