Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affect...Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affects 0.05-0.1%of new-borns(Wu et al.2015).It is generally understood that the development of CS has an underlying genetic basis.Specifically,genes related to somite regulation or osteo-genesis during embryonic development are believed to be responsible for the vertebral malformations observed in CS patients(Pourquie 2011).展开更多
Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human gene...Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.The emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome sequencing.Meanwhile,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS data.These advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary diseases.More 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 polymorphisms.At 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 sequencing.The path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.展开更多
基金This research was funded in part by Beijing Natural Science Foundation(JQ20032 to N.W.,7191007 to ZW)the National Natural Science Foundation of China(81822030 and 82072391 to NW,81930068 and 81772299 to ZW,81972132 to GQ,81672123 and 81972037 to TJZ,81871746 to YW)the China Postdoctoral Science Foundation(No.2020TQ0052 to ZL).
文摘Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affects 0.05-0.1%of new-borns(Wu et al.2015).It is generally understood that the development of CS has an underlying genetic basis.Specifically,genes related to somite regulation or osteo-genesis during embryonic development are believed to be responsible for the vertebral malformations observed in CS patients(Pourquie 2011).
基金supported by the National Natural Science Founda-tion of China(Grant Nos.81822030 and 82072391 to N.W.,81930068 and 81772299 to Z.W.,81772301 and 81972132 to G.Q.,81672123 and 81972037 to J.Z.)Beijing Natural Science Foundation(Grant Nos.JQ20032 to N.W.,and 7191007 to Z.W.)+1 种基金Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research Program,Non-profit Central Research Institute Fund of Chinese Academy of Med-ical Sciences(Grant No.2019PT320025)the National Undergradu-ates Innovation and Training Program of Peking Union Medical College(Grant Nos.202010023022 to S.Z.).
文摘Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.The emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome sequencing.Meanwhile,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS data.These advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary diseases.More 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 polymorphisms.At 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 sequencing.The path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.
