{"id":753,"date":"2023-12-14T01:00:00","date_gmt":"2023-12-14T01:00:00","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=2553a4db8f0c3d0dfcacbb749e1a145a"},"modified":"2023-12-14T16:00:00","modified_gmt":"2023-12-14T16:00:00","slug":"uncovering-the-genetic-etiology-of-inherited-bone-marrow-failure-syndromes-using-a-custom-designed-next-generation-sequencing-panel","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/14\/uncovering-the-genetic-etiology-of-inherited-bone-marrow-failure-syndromes-using-a-custom-designed-next-generation-sequencing-panel\/","title":{"rendered":"Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel"},"content":{"rendered":"Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders that account for \u223c30% of pediatric cases of bone marrow failure and are often associated with developmental abnormalities and cancer predisposition. This article reports the laboratory validation and clinical utility of a large-scale, custom-designed next-generation sequencing panel, Children's Hospital of Philadelphia (CHOP) IBMFS panel, for the diagnosis of IBMFS in a cohort of pediatric patients. This panel demonstrated excellent analytic accuracy, with 100% sensitivity, \u226599.99% specificity, and 100% reproducibility on validation samples.","protected":false},"excerpt":{"rendered":"<p>Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders that account for \u223c30% of pediatric cases of bone marrow failure and are often associated with developmental abnormalities and cancer predisposition. This article rep&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-753","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/753","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=753"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/753\/revisions"}],"predecessor-version":[{"id":840,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/753\/revisions\/840"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=753"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=753"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=753"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}