{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:29:52Z","timestamp":1770902992180,"version":"3.50.1"},"reference-count":29,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,11,18]]},"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1\/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method and results<\/jats:title>\n                  <jats:p>The authors used their custom DNA resequencing array which interrogates all possible single-nucleotide variants on both strands of all exons (n=160), splice sites and 5\u2032-untranslated region of 12 HCM genes (27 000 nucleotides). The results for 122 unrelated patients with HCM are presented. Thirty-three known or novel potentially pathogenic heterozygous single-nucleotide variants were identified in 38 patients (31%) in genes <jats:italic>MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3<\/jats:italic> and <jats:italic>ACTC1<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Although next-generation sequencing will replace all large-scale sequencing platforms for inherited cardiac disorders in the near future, this HCM resequencing array is currently the most rapid, cost-effective and reasonably efficient technology for first-tier mutation screening of HCM in clinical practice. Because of its design, the array is also an appropriate tool for initial screening of other inherited forms of cardiomyopathy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.083345","type":"journal-article","created":{"date-parts":[[2011,1,14]],"date-time":"2011-01-14T20:36:58Z","timestamp":1295037418000},"page":"572-576","source":"Crossref","is-referenced-by-count":37,"title":["Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical 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