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<p>Accounting for human genetic evidence can improve the outcomes and impact of basic medical research studies. However, current approaches are incompatible with the high volume of disease-associated genes that require mechanistic interrogation and risk overlooking important phenotypic associations. <i>Synteny</i> responds to an urgent need in systems biology, scaling human genetic analysis to match the throughput of modern omics technologies. This approach prioritises candidates with the strongest human disease relevance and unearths functionally important proteins (<a href="https://bigproteomics.shinyapps.io/Synteny/">https://bigproteomics.shinyapps.io/Synteny/</a>).</p>

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Synteny – a high throughput web tool to streamline causal gene prioritisation and provide insight into protein function

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月29日

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  • Harry B. Cutler,
  • Jacqueline Stöckli,
  • Søren Madsen,
  • Stewart W.C. Masson,
  • Oliver K. Fuller,
  • Tom Buckingham Shum,
  • David E. James

摘要

Accounting for human genetic evidence can improve the outcomes and impact of basic medical research studies. However, current approaches are incompatible with the high volume of disease-associated genes that require mechanistic interrogation and risk overlooking important phenotypic associations. Synteny responds to an urgent need in systems biology, scaling human genetic analysis to match the throughput of modern omics technologies. This approach prioritises candidates with the strongest human disease relevance and unearths functionally important proteins (https://bigproteomics.shinyapps.io/Synteny/).