BMC Genomics · 2010 · 116 citations · 35 references
Life SciencesBiologyGeneticsGenome EvolutionGenomicsMolecular EvolutionComparative Microbial GenomicsGenome SequencingMicrobial Evolutionary GenomicsMicrobial Genome StructureMolecular Evolution In MicrobesYeast GeneticsBreakpoint AnalysisCopy Number AmplificationGenome Sequencing Of Evolved PopulationsGenomic Rearrangement AnalysisMicrobial Genome EvolutionSingle-nucleotide PolymorphismsStructural Rearrangement AnalysisYeast Evolution
BACKGROUND: Experimental evolution of microbial populations provides a unique opportunity to study evolutionary adaptation in response to controlled selective pressures. However, until recently it has been difficult to identify the precise genetic changes underlying adaptation at a genome-wide scale. New DNA sequencing technologies now allow the genome of parental and evolved strains of microorganisms to be rapidly determined. RESULTS: We sequenced >93.5% of the genome of a laboratory-evolved strain of the yeast Saccharomyces cerevisiae and its ancestor at >28x depth. Both single nucleotide polymorphisms and copy number amplifications were found, with specific gains over array-based methodologies previously used to analyze these genomes. Applying a segmentation algorithm to quantify structural changes, we determined the approximate genomic boundaries of a 5x gene amplification. These boundaries guided the recovery of breakpoint sequences, which provide insights into the nature of a complex genomic rearrangement. CONCLUSIONS: This study suggests that whole-genome sequencing can provide a rapid approach to uncover the genetic basis of evolutionary adaptations, with further applications in the study of laboratory selections and mutagenesis screens. In addition, we show how single-end, short read sequencing data can provide detailed information about structural rearrangements, and generate predictions about the genomic features and processes that underlie genome plasticity.
35
Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
Daniel R. Zerbino, Ewan Birney · Genome Research · 2008 · 9.7K citations · Full text
Accurate whole human genome sequencing using reversible terminator chemistry
David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text
Life Sciences, Biology, Genetics +11
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text
Exome sequencing identifies the cause of a mendelian disorder
Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text