Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

  PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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  A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

  lens family genomic clinical family pcr

• Confounding factors in assessing the enriched expression of somatic mutant alleles in bulk tumor samples.

  PMID 41781335 · PMC13138019 · Genome research · 2026 · 8 claims · 8 setups

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  Mutation-based ASE detection in bulk tumor samples can be confounded by gene expression differences between tumor and normal cells, producing apparent enrichment of the mutant allele in RNA without true ASE.

  tcga cutaneous serially whole-exome bulk novo

• ANOMALY: a Snakemake pipeline for identifying NuMTs from long-read sequencing data.

  PMID 41647924 · PMC12869244 · NAR genomics and bioinformatics · 2026 · 8 claims · 8 setups

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  ANOMALY is a novel Snakemake pipeline for detecting NuMTs from long-read sequencing data

  simulated real-world matched long-read short-read pipeline

• Current status and the future for the genetics of type I diabetes.

  PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups

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  A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.

  asp subjects t1dgc cases genome-wide mhc candidate