The Role of New Sequencing Technology in Identifying Rare Mutations in New Susceptibility Genes for Cancer
DOI: 10.1007/S40142-013-0021-7
关键词: Massive parallel sequencing 、 Gene 、 Genetic variation 、 Identification (biology) 、 Cancer 、 Exome sequencing 、 Human genome 、 Genetics 、 Biology 、 Genome
摘要: Massively parallel sequencing (MPS) has transformed our capacity to analyze the genome. Technology now facilitates production of hundreds gigabases data from single instrument runs and is flexible study design, allowing analyses full genomes through a range targeted strategies involving one thousands samples. The search for new cancer susceptibility genes no longer limited by technology; theoretically, MPS can be advantageous studies searching genetic variation responsible predisposition across risk spectrum. Genetically uncharacterized rare syndromes are being unraveled at much increased rate (including cancer-related syndromes), yet complex diseases such as common cancers have proven more challenging. revealed complexity human genome, current designs bioinformatic computational approaches need refined realize potential it contribute identification genes.
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