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Barry Moore

机构:University of Utah, Indiana University – Purdue University Indianapolis

发表论文 72 篇 · 总被引 6805 次 · h-index 30

代表论文

  • Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases (2021 · Genome Medicine · 被引 173)
  • Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome (2019 · Hepatology · 被引 90)
  • The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool (2018 · BMC Bioinformatics · 被引 46)
  • Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning (2023 · Genome Medicine · 被引 30)
  • Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome (2022 · Molecular Case Studies · 被引 16)
  • Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection (2024 · The American Journal of Human Genetics · 被引 13)