Scholarlink

<p>The widespread use of high-throughput sequencing for genetic diagnosis has led to considerable advances in patient care, but interpretation of the variants identified remains a challenge and geneticists routinely face the question of variants of uncertain significance. The clinical interpretation of genomic variants requires a high level of expertise to ensure appropriate genetic counseling. Assessing the impact of variants on splicing is a key issue in order to determine their pathogenicity as each variant can impact pre-mRNA splicing by disruption of the splicing code. It is for this reason that a diverse group of French molecular and clinical genetics experts from different diagnostic laboratories nationwide was established to discuss splicing issues and elaborate diagnostic recommendations. We describe an update of these recommendations with the aim of highlighting the importance of transcript characterization for variant interpretation and facilitating the diagnostic implementation of transcript studies, an important source of new diagnostics in human genetics.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network

  • 期刊论文

  • 发表日期：

    2025年6月5日

查看全文
  • Marie-Pierre Buisine,
  • Christine Bellanne-Chantelot,
  • Nadège Calmels,
  • Christel Vaché,
  • Thomas Besnard,
  • Benjamin Cogne,
  • Antonio Vitobello,
  • Amélie Piton,
  • Alexandra Martins,
  • Pascaline Gaildrat,
  • Claire-Marie Dhaenens,
  • Svetlana Gorokhova,
  • Nadia Boutry-Kryza,
  • Sandrine Caputo,
  • Raphaël Leman,
  • Sophie Krieger,
  • Gérald Le Gac,
  • Claude Houdayer

摘要

The widespread use of high-throughput sequencing for genetic diagnosis has led to considerable advances in patient care, but interpretation of the variants identified remains a challenge and geneticists routinely face the question of variants of uncertain significance. The clinical interpretation of genomic variants requires a high level of expertise to ensure appropriate genetic counseling. Assessing the impact of variants on splicing is a key issue in order to determine their pathogenicity as each variant can impact pre-mRNA splicing by disruption of the splicing code. It is for this reason that a diverse group of French molecular and clinical genetics experts from different diagnostic laboratories nationwide was established to discuss splicing issues and elaborate diagnostic recommendations. We describe an update of these recommendations with the aim of highlighting the importance of transcript characterization for variant interpretation and facilitating the diagnostic implementation of transcript studies, an important source of new diagnostics in human genetics.