推荐阅读

［1］陈竺.医学遗传学.3版.北京：人民卫生出版社，2015.

［2］唐北沙，曾胜，李凯.人类孟德尔遗传性疾病基因组序列变异解析与临床规范.中国现代神经疾病杂志，2017，17（7）：471-476.

［3］AMENDOLA L M，JARVIK G P，LEO M C，et al.Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium. Am J Hum Genet，2016，99（1）：247.

［4］AMBERGER JS，BOCCHINI CA，SCOTT AF，et al.OMIM. org：leveraging knowledge a cross phenotypegene relationships. Nucleic Acids Research，2019，4（D1）：D1038-D1043.

［5］ARONSON S J，AND REHM H L. Building the foundation for genomics in precision medicine. Nature，2015，526（7573）：336-342.

［6］BAMSHAD M J，NG S B，BIGHAM A W，et al.Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet，2011，12（11）：745-755.

［7］BIESECKER L G，GREEN R C. Diagnostic clinical genome and exome sequencing. N Engl J Med，2014，371（12）：1169-1170.

［8］BOYCOTT K M，RATH A，CHONG J X，et al.International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet，2017，100（5）：695-705.

［9］DEN DUNNEN J T，DALGELISH R，MAGLOTT D R，et al. HGVS recommendations for the description of sequence variants：2016 update. Hum Mutat，2016，37（6）：564-569.

［10］HAMPEL H，O’BRYANT S E，DURRLEMAN S，et al. A precision medicine initiative for Alzheimer’s disease：The road ahead to biomarker-guided integrative disease modeling. Climacteric，2017，20（2）：107-118.

［11］KRISHNAN R R. A knowledge network for a dynamic taxonomy of psychiatric disease. Dialogues Clin Neurosci，2015，17（1）：79-87.

［12］MILLER D T，LEE K，CHUNG W K，et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing：a policy statement of the American College of Medical Genetics and Genomics（ACMG）. Genet Med，2021，23（8）：1381-1390.

［13］MCKUSICK V A. Mendelian inheritance in man and its online version，OMIM. Am J Hum Genet，2007，80（4）：588-604.

［14］OLSON M V. A behind-the-scenes story of precision medicine. Genomics Proteomics Bioinformatics，2017，15（1）：3-10.

［15］PAYAMI H. The emerging science of precision medicine and pharmacogenomics for Parkinson’s disease. Mov Disord，2017，32（7）：1139-1146.

［16］RICHARDS S，AZIZ N，BALE S，et al. Standards and guidelines for the interpretation of sequence variants：A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med，2015，17（5）：405-423.

［17］SCHERER S W，LEE C，BIRNEY E，et al. Challenges and standards in integrating surveys of structural variation. Nat Genet，2007，39（7 Suppl）：7-15.

［18］VANDIJK EL，JASZCZYSZYN Y，NAQUIN D，et al. The third revolution in sequencing technology.Trends Genet. 2018，34（9）：666-681.

［19］WATSON J D，CRICK F H. Molecular structure of nucleic acids：A structure for deoxyribose nucleic acid.Nature，1953，248（4）：623-624.

［20］WONG F C，LO Y M，2016. Prenatal diagnosis innovation：genome sequencing of maternal plasma. Annu Rev Med，2015，6，7（1）：419-432.