Abdel-Aziz NN, El-Kamah GY, Khairat RA, Mohamed HR, Gad YZ, El-Ghor AM, Amr K (2021) Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1. Mol Genet Genomic Med. https://doi.org/10.1002/mgg3.1631

Article  Google Scholar 

Adams DR, Eng CM (2018) Next-generation sequencing to diagnose suspected genetic disorders. N Engl J Med 379:1353–1362. https://doi.org/10.1056/NEJMra1711801

Article  CAS  PubMed  Google Scholar 

Alkaya DU, Lissewski C, Yeşil G, Zenker M, Tüysüz B (2021) Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.62410

Article  Google Scholar 

Alliance G, Health, D. of C.D. of (2010) Diagnosis of a genetic disease, understanding genetics: a District of Columbia guide for patients and health professionals. Genetic Alliance.

Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S (2020) Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. BMC Med Genet 21:50. https://doi.org/10.1186/s12881-020-0986-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DGB, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV (2015) College of American pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 139:481–493. https://doi.org/10.5858/arpa.2014-0250-CP

Article  PubMed  Google Scholar 

Başaran S (2021) The effectiveness of PTPN11 gene analysis in the prenatal diagnosis of noonan syndrome. J Istanbul Fac Med 84:34–39. https://doi.org/10.26650/IUITFD.2020.803356

Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ (2015) Confirming variants in next-generation sequencing panel testing by Sanger sequencing. J Mol Diagn 17:456–461. https://doi.org/10.1016/j.jmoldx.2015.03.004

Article  CAS  PubMed  Google Scholar 

Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M (2020) A call for global action for rare diseases in Africa. Nat Genet 52:21–26. https://doi.org/10.1038/s41588-019-0552-2

Article  CAS  PubMed  Google Scholar 

Beale S, Sanderson D, Sanniti A, Dundar Y, Boland A (2015) Economics, A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children. NIHR Journals Library

Beck TF, Mullikin JC, NISC comparative sequencing program, Biesecker LG (2016) Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants. Clin Chem 62:647–654. https://doi.org/10.1373/clinchem.2015.249623

Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ (2015) Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics. Hum Mutat 36:26–29. https://doi.org/10.1002/humu.22685

Article  CAS  PubMed  Google Scholar 

Caelers D (2023) African genomic data deficit threatens global human health. Nature Africa. https://doi.org/10.1038/d44148-023-00038-x

Article  Google Scholar 

Castellanos E, Gel B, Rosas I, Tornero E, Santín S, Pluvinet R, Velasco J, Sumoy L, del Valle J, Perucho M, Blanco I, Navarro M, Brunet J, Pineda M, Feliubadaló L, Capellá G, Lázaro C, Serra E (2017) A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape. Sci Rep 7:39348. https://doi.org/10.1038/srep39348

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chang X, Wang K (2012) wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet 49:433–436. https://doi.org/10.1136/jmedgenet-2012-100918

Article  PubMed  Google Scholar 

Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, Hazelhurst S, Mazandu G, Nyangiri OA, Mbiyavanga M, Benkahla A, Kassim SK, Mulder N, Adebamowo SN, Chimusa ER, Muzny D, Metcalf G, Gibbs RA, Rotimi C, Ramsay M, Adeyemo AA, Lombard Z, Hanchard NA (2020) High-depth African genomes inform human migration and health. Nature 586:741–748. https://doi.org/10.1038/s41586-020-2859-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D (2016) New mutations associated with rasopathies in a central European population and genotype-phenotype correlations. Ann Hum Genet 80:50–62. https://doi.org/10.1111/ahg.12140

Article  CAS  PubMed  Google Scholar 

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF (2018) Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med 3:1–10. https://doi.org/10.1038/s41525-018-0053-8

Article  CAS  Google Scholar 

Di Resta C, Galbiati S, Carrera P, Ferrari M (2018) Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC 29:4–14

PubMed  PubMed Central  Google Scholar 

Fan X, Wang Y, Fan Y, Du H, Luo N, Zhang S, Chen X (2019) TCOF1 pathogenic variants identified by whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect. Orphanet J Rare Dis 14:178. https://doi.org/10.1186/s13023-019-1136-z

Article  PubMed  PubMed Central  Google Scholar 

Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O (2018) Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing. J Mol Diagn 20:572–582. https://doi.org/10.1016/j.jmoldx.2018.04.004

Article  CAS  PubMed  Google Scholar 

Gulilat M, Lamb T, Teft WA, Wang J, Dron JS, Robinson JF, Tirona RG, Hegele RA, Kim RB, Schwarz UI (2019) Targeted next generation sequencing as a tool for precision medicine. BMC Med Genomics 12:81. https://doi.org/10.1186/s12920-019-0527-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu T, Chitnis N, Monos D, Dinh A (2021) Next-generation sequencing technologies: an overview. Human Immunology, Next Generation Sequencing and its Application to Medical Laboratory Immunology 82:801–811. https://doi.org/10.1016/j.humimm.2021.02.012

Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL (2019) CCMG practice guideline: laboratory guidelines for next-generation sequencing. J Med Genet 56:792–800. https://doi.org/10.1136/jmedgenet-2019-106152

Article  CAS  PubMed  Google Scholar 

Janssen N, Bergman JEH, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RMW, van Ravenswaaij-Arts CMA, Hoefsloot LH (2012) Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 33:1149–1160. https://doi.org/10.1002/humu.22086

Article  CAS  PubMed  Google Scholar 

Kamp M, Krause A, Ramsay M (2021) Has translational genomics come of age in Africa? Hum Mol Genet. https://doi.org/10.1093/hmg/ddab180

Article  PubMed  Google Scholar 

Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ (2012) Next-generation community genetics for low- and middle-income countries. Genome Med 4:25. https://doi.org/10.1186/gm324

Article  PubMed  PubMed Central  Google Scholar 

Kromberg JGR, Sizer EB, Christianson AL (2013) Genetic services and testing in South Africa. J Community Genet 4:413–423. https://doi.org/10.1007/s12687-012-0101-5

Article  PubMed  Google Scholar 

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR (2018) Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med 20:435–443. https://doi.org/10.1038/gim.2017.119

Article  CAS  PubMed  Google Scholar 

Liu Z, Zhu L, Roberts R, Tong W (2019) Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: where are we? Trends Genet 35:852–867. https://doi.org/10.1016/j.tig.2019.08.006

Article  CAS  PubMed  Google Scholar 

Marian AJ (2020) Clinical Interpretation and Management of Genetic Variants. JACC: Basic Transl Sci 5:1029–1042. https://doi.org/10.1016/j.jacbts.2020.05.013

Article  PubMed  Google Scholar 

Marino P, Touzani R, Perrier L, Rouleau E, Kossi DS, Zhaomin Z, Charrier N, Goardon N, Preudhomme C, Durand-Zaleski I, Borget I, Baffert S (2018) Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study. Eur J Hum Genet 26:314–323. https://doi.org/10.1038/s41431-017-0081-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5. https://doi.org/10.1038/ejhg.2015.226

Article  CAS  PubMed  Google Scholar 

Maxmen A (2020) The next chapter for African genomics. Nature 578:350–354. https://doi.org/10.1038/d41586-020-00454-1

Article  CAS  PubMed  Google Scholar 

Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215

Article  CAS  P