Page 58 - Read Online
P. 58

Page 52                   Loong et al. J Transl Genet Genom 2023;7:27-49  https://dx.doi.org/10.20517/jtgg.2022.20

               109.      Cingolani P, Platts A, Wang le L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms,
                    SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly 2012;6:80-92.  DOI  PubMed  PMC
               110.      Whiffin N, Minikel E, Walsh R, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet
                    Med 2017;19:1151-8.  DOI  PubMed  PMC
               111.      Wu D, Dou J, Chai X, et al. Large-scale whole-genome sequencing of three diverse asian populations in singapore. Cell
                    2019;179:736-749.e15.  DOI  PubMed
               112.      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;17:405-24.  DOI  PubMed  PMC
               113.      Martin AR, Williams E, Foulger RE, et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
                    Nat Genet 2019;51:1560-5.  DOI  PubMed
               114.      Tomar S, Klinzing DC, Chen CK, et al. Causative variants for inherited cardiac conditions in a southeast asian population cohort.
                    Circ Genom Precis Med 2022;15:e003536.  DOI  PubMed
               115.      Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum
                    Genet 2013;7:7.20.  DOI  PubMed  PMC
               116.      Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on
                    proteins. Nucleic Acids Res 2012;40:W452-7.  DOI  PubMed  PMC
               117.      Chun S, Fay JC. Identification of deleterious mutations within three human genomes. Genome Res 2009;19:1553-61.  DOI  PubMed
                    PMC
               118.      Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat
                    Methods 2010;7:575-6.  DOI  PubMed
               119.      Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid
                    substitutions using hidden Markov models. Hum Mutat 2013;34:57-65.  DOI  PubMed  PMC
               120.      Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome
                    Res 2010;20:110-21.  DOI  PubMed  PMC
               121.      Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human
                    genome. Nucleic Acids Res 2019;47:D886-94.  DOI  PubMed  PMC
               122.      Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics
                    2015;31:761-3.  DOI  PubMed  PMC
               123.      Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype.
                    Nucleic Acids Res 2014;42:D980-5.  DOI  PubMed  PMC
               124.      Sun Y, Ruivenkamp CA, Hoffer MJ, et al. Next-generation diagnostics: gene panel, exome, or whole genome? Hum Mutat
                    2015;36:648-55.  DOI
               125.      Cirino AL, Lakdawala NK, McDonough B, et al. A comparison of whole genome sequencing to multigene panel testing in
                    hypertrophic cardiomyopathy patients. Circ Cardiovasc Genet 2017:10.  DOI  PubMed  PMC
               126.      Meienberg J, Bruggmann R, Oexle K, Matyas G. Clinical sequencing: is WGS the better WES? Hum Genet 2016;135:359-62.  DOI
                    PubMed  PMC
               127.      Pua CJ, Bhalshankar J, Miao K, et al. Development of a Comprehensive sequencing assay for inherited cardiac condition genes. J
                    Cardiovasc Transl Res 2016;9:3-11.  DOI
               128.      Sturm AC. Cardiovascular cascade genetic testing: exploring the role of direct contact and technology. Front Cardiovasc Med
                    2016;3:11.  DOI  PubMed  PMC
               129.      Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE. Probabilistic cost-effectiveness analysis of cascade screening for
                    familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011;97:1175-81.  DOI  PubMed
               130.      Kam S, Bylstra Y, Forrest L, Macciocca I, Foo R. Experience of Asian males communicating cardiac genetic risk within the family. J
                    Community Genet 2018;9:293-303.  DOI  PubMed  PMC
               131.      McGuire AL, Beskow LM. Informed consent in genomics and genetic research. Annu Rev Genomics Hum Genet 2010;11:361-81.
                    DOI  PubMed  PMC
               132.      Borry P, van Hellemondt RE, Sprumont D, et al. Legislation on direct-to-consumer genetic testing in seven European countries. Eur J
                    Hum Genet 2012;20:715-21.  DOI  PubMed  PMC
               133.      Miller DT, Lee K, Chung WK, 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;23:1381-90.
                    DOI
               134.      Maron BJ, Yeates L, Semsarian C. Clinical challenges of genotype positive (+)-phenotype negative (-) family members in
                    hypertrophic cardiomyopathy. Am J Cardiol 2011;107:604-8.  DOI  PubMed
               135.      Safarova MS, Ackerman MJ, Kullo IJ. A call for training programmes in cardiovascular genomics. Nat Rev Cardiol 2021;18:539-40.
                    DOI  PubMed
               136.      Ahmad F, McNally EM, Ackerman MJ, et al. Establishment of specialized clinical cardiovascular genetics programs: recognizing the
                    need and meeting standards: a scientific statement from the american heart association. Circ Genom Precis Med 2019;12:e000054.
                    DOI  PubMed
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