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Updated: Jul 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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优先考虑与疾病相关的误解变体与化学蛋白质组检测的氨基酸

Maria F Palafox1, Lisa Boatner2, Blake R Wilde3

  • 1Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA; Department of Pathology and Lab Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA; Department of Biological Chemistry, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

American journal of human genetics
|May 24, 2025
PubMed
概括

这项研究探索使用蛋白质反应性测量来识别引起疾病的遗传变异. 化学蛋白质组数据有助于确定功能性重要氨基酸,有助于变异解释和药物开发.

关键词:
门德尔病是门德尔病的一个疾病.癌症倾向 倾向于癌症化学蛋白质组学化学组学临床遗传学 临床遗传学半氨酸 (cysteine) 是一种氨酸.基因组学就是基因组学.lysine lysine 氨酸 的使用方法错误的意义变化的变化.蛋白质组学 蛋白质组学泰洛辛 (tyrosine) 是一种蛋白质.

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