{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:32:22Z","timestamp":1760236342492,"version":"build-2065373602"},"reference-count":55,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T00:00:00Z","timestamp":1637193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Inherited bleeding disorders (IBDs) are the most frequent congenital diseases in the Colombian population; three of them are hemophilia A (HA), hemophilia B (HB), and von Willebrand Disease (VWD). Currently, diagnosis relies on multiple clinical laboratory assays to assign a phenotype. Due to the lack of accessibility to these tests, patients can receive an incomplete diagnosis. In these cases, genetic studies reinforce the clinical diagnosis. The present study characterized the molecular genetic basis of 11 HA, three HB, and five VWD patients by sequencing the F8, F9, or the VWF gene. Twelve variations were found in HA patients, four in HB patients, and 19 in WVD patients. From these variations a total of 25 novel variations were found. Disease-causing variations were used as positive controls for validation of the high-resolution melting (HRM) variant-scanning technique. This approach is a low-cost genetic diagnostic method proposed to be incorporated in developing countries. For the data analysis, we developed an accessible open-source code in Python that improves HRM data analysis with better sensitivity of 95% and without bias when using different HRM equipment and software. Analysis of amplicons with a length greater than 300 bp can be performed by implementing an analysis by denaturation domains.<\/jats:p>","DOI":"10.3390\/genes12111807","type":"journal-article","created":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T08:53:56Z","timestamp":1637225636000},"page":"1807","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogot\u00e1, Colombia"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3808-1689","authenticated-orcid":false,"given":"Juliana","family":"Lago","sequence":"first","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Universidad de Los Andes, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Groot","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Universidad de Los Andes, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5524-8503","authenticated-orcid":false,"given":"Diego","family":"Navas","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Universidad de Los Andes, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5290-6486","authenticated-orcid":false,"given":"Paula","family":"Lago","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Kyushu Institute of Technology, Kitakyushu 804-8550, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Gamboa","sequence":"additional","affiliation":[{"name":"Laboratorio de Referencia en Hemostasia, Bogot\u00e1 110231, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dayana","family":"Calder\u00f3n","sequence":"additional","affiliation":[{"name":"Corporaci\u00f3n Corpogen, Universidad Central, Bogot\u00e1 110311, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7846-2948","authenticated-orcid":false,"given":"Diana C.","family":"Polan\u00eda-Villanueva","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Universidad de Los Andes, Bogot\u00e1 111711, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/j.1365-2516.2006.01271.x","article-title":"Rare bleeding disorders","volume":"12","author":"Peyvandi","year":"2006","journal-title":"Haemophilia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.mpmed.2021.01.009","article-title":"Inherited bleeding disorders","volume":"49","author":"Ling","year":"2021","journal-title":"Medicine"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.blre.2016.08.003","article-title":"Genetic diagnosis in hemophilia and von Willebrand disease","volume":"31","author":"Swystun","year":"2017","journal-title":"Blood Rev."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1111\/jth.15301","article-title":"Genetic analysis of carrier status in female members of Japanese hemophilia families","volume":"19","author":"Shinozawa","year":"2021","journal-title":"J. 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