Research map: Beyond the sequence

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Papers in this map

  1. Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care · Kate Sahan · 2025 · 5 citations · Cited by this paper
  2. Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study · 2026 · Related
  3. Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references · Chiara L Folland · 2026 · 4 citations · Cited by this paper
  4. The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information · 2026 · Related
  5. A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling · Hikaru Nakahara · 2026 · 2 citations · Cited by this paper
  6. Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder · Yeseul Kim · 2026 · 2 citations · Cited by this paper
  7. Multilocus inherited neoplasia alleles syndrome: a retrospective review from a Canadian single institution · Kathleen Orrell · 2026 · 2 citations · Cited by this paper
  8. Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools · Clément Hersent · 2026 · 1 citation · Cited by this paper
  9. Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder · Kazuyuki Komatsu · 2026 · 1 citation · Cited by this paper
  10. “There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians · Vaishnavi Nathan · 2026 · 1 citation · Cited by this paper
  11. CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders · Matthias De Wachter · 2026 · 1 citation · Cited by this paper
  12. Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries · Kathrin Taxer · 2026 · 1 citation · Cited by this paper
  13. “Where do I go from here?” Navigating a lifelong road without a map: the care experiences of hereditary cancer patients · Carly Butkowsky · 2026 · 1 citation · Cited by this paper
  14. Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing · Deborah Schönegger · 2026 · 1 citation · Cited by this paper
  15. Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders · Ankur Chaurasia · 2026 · 1 citation · Cited by this paper

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