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Advances in clinical genetics and genomics

Intelligent Medicine 2021年第3期1卷 128-133页

作者： Sen Zhao Xi Cheng Wen Wen Guixing Qiu Terry Jianguo Zhang Zhihong Wu Nan Wu Department of Orthopedic Surgery State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing 100730China Key Laboratory of Big Data for Spinal Deformities Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Medical Research Center Peking Union Medical College HospitalChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing 100730China State Key Laboratory of Complex Severe and Rare diseases Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing100730China

Developments in genetics and genomics are progressing at an unprecedented *** years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human *** emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome ***,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS *** advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary *** recently,the genotype-phenotype relationship and polygenic risk scores(PRSs)generated from genome-wide association studies have expanded our horizon from rare genetic mutations to a genomic landscape implicated by the combined effect of both rare variants and *** the same time,clinicians and genetic counselors are facing huge challenges conferred by overwhelming genomic knowledge and long sheets of testing reports for comprehensive genomic *** path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.

关键词： Clinical genetics Clinical genomics Next-generation sequencing polygenic diseases

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