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Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies Genet. Mol. Biol.
Lapunzina,Pablo; López,Rocío Ortiz; Rodríguez-Laguna,Lara; García-Miguel,Purificación; Martínez,Augusto Rojas; Martínez-Glez,Víctor.
The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH), SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing) or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate...
Tipo: Info:eu-repo/semantics/article Palavras-chave: NGS; New technologies; Developmental syndrome; Cancer predisposition.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200010
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