The need for improved methods for genome-wide variant

The gap

Evidence profile

Stated in the discussion and cells limitations and cells research gap sections of the source papers, classified as general, drawn from work published between 2024 and 2026, spanning 3 journals. Those papers have been cited 414 times in total.

Supporting evidence — 3 representative gaps

• A rapid review of genetic association studies of parent-of-origin effects and fetal growth (2026) · Molecular and Cellular Pediatrics · doi

  A major limitation of the candidate gene approach is that it is highly dependent on previous functional knowl- edge of the genes to inform variant selection, which, when this knowledge is insufficient, can introduce selec- tion bias [80]. Rather than testing genetic markers limited to a spe- cific gene or region, the GWAS design involves testing genetic markers across entire genomes in sample popu- lations to find variants statistically associated with the phenotype of interest.

  generalstated in discussionevidence 5/5
  Keywords: gene testing genetic markers major limitation candidate approach highly dependent previous functional knowl edge genes
• Integrated post-GWAS, single-cell, and functional analyses prioritize TCTN2 at an osteoarthritis locus associated with innate immunity-related cartilage remodeling (2026) · Frontiers in Immunology · doi

  The study is limited by the lack of functional interpretation of common-variant signals. - The study is also limited by the use of a post-GWAS interpretation approach, which may not capture all potential effector genes. - The study is further limited by the use of a single-cell analysis approach, which may not capture all cell types and states.

  generalstated in cells limitationsevidence 5/5
  Keywords: study limited lack functional interpretation common-variant signals use
• CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions (2024) · Nucleic Acids Research · cited 414× · doi

  The need for improved methods for genome-wide variant prioritization. - The challenge of distinguishing between neutral or benign variants and those that are clinically relevant or disease-causing. - The requirement for advanced computational methods and functional assays to uncover the potential impact of genetic variants.

  generalstated in cells research gapevidence 5/5
  Keywords: need improved methods genome-wide variant prioritization challenge distinguishing

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