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新生儿查的多种方法:机遇和挑战

Alex J Ashenden1, Ayesha Chowdhury2, Lucy T Anastasi2

  • 1Department of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.

International journal of neonatal screening
|July 25, 2024
PubMed
概括

新生儿查可以扩展使用多组技术,如基因组学和代谢学,以更广泛地检测疾病和终身护理. 整合这些方法解决了局限性,并改善了新生儿健康结果.

关键词:
干燥的血斑 干燥的血斑基因组查是指基因组查.质谱测量质谱测量质谱测量质谱测量质量测量质谱测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量代谢生物组的代谢生物组多种主题的多种主题.新生儿查 新生儿查公众的接受度公众的接受度进行全基因组测序.

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Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...