{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T10:31:32Z","timestamp":1776335492695,"version":"3.51.2"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next\u2010generation sequencing (NGS) technology have enabled high\u2010throughput methods for molecular ICFD diagnosis. However, detailed descriptions of clinical applications and routine laboratory experiences in this field remain scarce.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>This study presents the results from a real\u2010world experience using an NGS\u2010based gene panel for routine molecular diagnosis, applied to more than 500 ICFD patients in Spain.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A custom NGS gene panel targeting 22 ICFD\u2010related genes was validated using 20 patients with known variants. Subsequently, the panel was applied to 515 ICFD patients from 28 Spanish hospitals. Structural variants were detected by multiplex ligation\u2010dependent probe amplification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among the 515 patients analysed, 402 had complete phenotypic data specified in the genetic study form, 83 had incomplete data, and 30 were potential haemophilia carriers. Identification disease\u2010causing variant rates were 69%, 58% and 53%, respectively. Candidate variants were identified in 74% of cases. A total of 460 variants across 18 genes were identified, 302 unique variants, with 37% being novel disease\u2010causing variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study represents the largest analysis of ICFD patients conducted in Spain, providing significant insights into the molecular epidemiology of these disorders. It underscores the critical role of NGS in routine clinical practice while addressing challenges faced by genetic laboratories. The findings highlight a growing shift among haematologists towards integrating genetic studies early in diagnostic workflows alongside phenotypic assessments to enhance the accuracy and efficiency of ICFD diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70075","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T13:43:06Z","timestamp":1751031786000},"page":"734-742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Integrating Next\u2010Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real\u2010World Data From Spanish Patients"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7909-9995","authenticated-orcid":false,"given":"Nina","family":"Borr\u00e0s","sequence":"first","affiliation":[{"name":"Laboratori Coagulopaties Cong\u00e8nites Banc de Sang i Teixits  Barcelona 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Materno\u2010Infantil de Canarias  Las Palmas Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela","family":"Cortes\u2010Vidal","sequence":"additional","affiliation":[{"name":"Servicio Hematolog\u00eda y Hemoterapia Complejo Hospitalario Universitario de Santiago de Compostela  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario A.","family":"Rios de Paz","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda Hospital Universitario Nuestra Se\u00f1ora de Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Antonio","family":"Rodr\u00edguez\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda Complejo Asistencial Universitario de Le\u00f3n  Le\u00f3n 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