Whole Genome Sequencing
作者： Pauline C. Ng , Ewen F. Kirkness
DOI: 10.1007/978-1-60327-367-1_12
关键词: Cancer genome sequencing 、 Genome project 、 Computational biology 、 Biology 、 Exome sequencing 、 Reference genome 、 Whole genome sequencing 、 Deep sequencing 、 Sequence assembly 、 Shotgun sequencing
摘要: Whole genome sequencing provides the most comprehensive collection of an individual's genetic variation. With falling costs technology, we envision paradigm shift from microarray-based genotyping studies to whole sequencing. We review methodologies for There are two approaches assembling short shotgun sequence reads into longer contiguous genomic sequences. In de novo assembly approach, compared each other, and then overlapped build The reference-based approach involves mapping read a reference sequence. discuss methods identifying variation (single nucleotide polymorphisms, small indels, copy number variants) building haplotypes assemblies, potential pitfalls. expect evolve rapidly as technologies improve more human genomes sequenced.
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