van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, Roos-Hesselink JW. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011;58(21):2241–7.

Article  PubMed  Google Scholar 

Zimmerman MS, Smith AGC, Sable CA, Echko MM, Wilner LB, Olsen HE, Atalay HT, Awasthi A, Bhutta ZA, Boucher JL, et al. Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Child Adolesc Health. 2020;4(3):185–200.

Article  Google Scholar 

Liu Y, Chen S, Zuhlke L, Black GC, Choy MK, Li N, Keavney BD. Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol. 2019;48(2):455–63.

Article  PubMed  PubMed Central  Google Scholar 

Collaborators GCHD. Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Child Adolesc Health. 2020;4(3):185–200.

Article  Google Scholar 

Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, et al. Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association. Circulation. 2018;138(21):e653–711.

Article  PubMed  PubMed Central  Google Scholar 

Helm BM, Landis BJ, Ware SM. Genetic evaluation of inpatient neonatal and infantile congenital heart defects: new findings and review of the literature. Genes. 2021;12(8):1244.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, et al. Evidence-based assessment of congenital heart disease genes to enable returning results in a genomic study. Circ Genom Precis Med. 2023;16(2):e003791.

Article  PubMed  PubMed Central  Google Scholar 

De Backer J, Callewaert B, Muino Mosquera L. Genetics in congenital heart disease. Are we ready for it? Rev Esp Cardiol (Engl Ed). 2020;73(11):937–47.

PubMed  Google Scholar 

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350(6265):1262–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49(11):1593–601.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gifford CA, Ranade SS, Samarakoon R, Salunga HT, de Soysa TY, Huang Y, Zhou P, Elfenbein A, Wyman SK, Bui YK, et al. Oligogenic inheritance of a human heart disease involving a genetic modifier. Science. 2019;364(6443):865–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, et al. De novo and rare variants at multiple loci support the oligogenic origins of atrioventricular septal heart defects. PLoS Genet. 2016;12(4):e1005963.

Article  PubMed  PubMed Central  Google Scholar 

Russell WL, Kelly EM, Hunsicker PR, Bangham JW, Maddux SC, Phipps EL. Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc Natl Acad Sci U S A. 1979;76(11):5818–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, Peterson KA, Li Y, Schwartz MC, Reynolds WT, et al. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017;49(7):1152–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR, et al. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015;521(7553):520–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Salinger AP, Justice MJ. Mouse mutagenesis using N-ethyl-N-nitrosourea (ENU). CSH Protoc. 2008;2008:pdb.prot4985.

PubMed  Google Scholar 

Shomer NH, Allen-Worthington KH, Hickman DL, Jonnalagadda M, Newsome JT, Slate AR, Valentine H, Williams AM, Wilkinson M. Review of rodent euthanasia methods. J Am Assoc Lab Anim Sci. 2020;59(3):242–53.

Article  PubMed  PubMed Central  Google Scholar 

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Faust GG, Hall IM. SAMBLASTER: fast duplicate marking and structural variant read extraction. Bioinformatics. 2014;30(17):2503–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P. Sambamba: fast processing of NGS alignment formats. Bioinformatics. 2015;31(12):2032–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF, Consortium WGS, Wilkie AOM, McVean G, Lunter G. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet. 2014;46(8):912–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.

Article  PubMed  PubMed Central  Google Scholar 

Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11(5):863–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011;88(1):76–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen S, Zhou Y, Chen Y, Gu J. fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics. 2018;34(17):i884–90.

Article  PubMed  PubMed Central  Google Scholar 

Genomes Project C, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.

Article  Google Scholar 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. Genome Project Data Processing S: The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078–9.

Article  PubMed  PubMed Central  Google Scholar 

Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir R, Roazen D, Thibault J, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43(1110):11.10.11-11.10.33.

Google Scholar 

Cheng J, Novati G, Pan J, Bycroft C, Zemgulyte A, Applebaum T, Pritzel A, Wong LH, Zielinski M, Sargeant T, et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science. 2023;381(6664):eadg7492.