{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:58Z","timestamp":1789949278636,"version":"4.0.1"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,3,22]],"date-time":"2015-03-22T00:00:00Z","timestamp":1426982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Shenzhen Municipal Government of China","award":["CXZZ20130517144604091"],"award-info":[{"award-number":["CXZZ20130517144604091"]}]},{"name":"Shenzhen Key Laboratory of Genomics","award":["CXB200903110066A"],"award-info":[{"award-number":["CXB200903110066A"]}]},{"name":"Guangdong Enterprise Key Laboratory of Human Disease Genomics","award":["2011A060906007"],"award-info":[{"award-number":["2011A060906007"]}]},{"name":"Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:p>Next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) has now evolved to be a relatively affordable and efficient means of detecting genetic mutations. Whole genome sequencing (<jats:styled-content style=\"fixed-case\">WGS<\/jats:styled-content>) or whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) offers the opportunity for rapid diagnosis in many paediatric haematological conditions, where phenotypes are variable and either a large number of genes are involved, or the genes are large making sanger sequencing expensive and labour\u2010intensive. <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> offers the potential for gene discovery in patients who do not have mutations in currently known genes. This report shows how <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> was used in the diagnosis of six paediatric haematology cases. In four cases (Diamond\u2013Blackfan anaemia, congenital neutropenia (<jats:italic>n<\/jats:italic>\u2009=\u20092), and Fanconi anaemia), the diagnosis was suspected based on classical phenotype, and <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> confirmed those suspicions. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">RPS19<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">ELANE<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">FANCD2<\/jats:styled-content><\/jats:italic> were found. The final two cases (<jats:italic><jats:styled-content style=\"fixed-case\">MYH9<\/jats:styled-content><\/jats:italic> associated macrothrombocytopenia associated with multiple congenital anomalies; atypical juvenile myelomonocytic leukaemia associated with a <jats:italic><jats:styled-content style=\"fixed-case\">KRAS<\/jats:styled-content><\/jats:italic> mutation) highlight the utility of <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> where the diagnosis is less certain, or where there is an unusual phenotype. We discuss the advantages and limitations of <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> in the setting of these cases, and in haematological conditions more broadly, and discuss where <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> is most efficiently used.<\/jats:p>","DOI":"10.1111\/cge.12573","type":"journal-article","created":{"date-parts":[[2015,2,20]],"date-time":"2015-02-20T15:33:01Z","timestamp":1424446381000},"page":"163-172","source":"Crossref","is-referenced-by-count":19,"title":["Utility of next\u2010generation sequencing technologies for the efficient genetic resolution of haematological disorders"],"prefix":"10.1111","volume":"89","author":[{"given":"J.","family":"Zhang","sequence":"first","affiliation":[{"name":"T\u2010Life Research Center Fudan University  Shanghai 200433 China"},{"name":"Department of BioMedical Research BGI\u2010Shenzhen  Shenzhen 518083 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