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 Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.

  PMID 41669879 · PMC13088316 · Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026 · 8 claims · 8 setups

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  SpecImmune is the first unified computational framework to simultaneously genotype HLA, KIR, IG, TCR, and CYP genes from long-read data.

  1kgp hprc hgsvc long-read targeted germline

• Germline sequence variation within the ribosomal DNA is associated with human complex traits.

  PMID 41966685 · PMC13261666 · Cell genomics · 2026 · 8 claims · 5 setups

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  Germline rDNA sequence variant frequencies associate with multiple human complex traits in the UK Biobank, independently of rDNA copy number

  biobank genomes synthetic 28s whole-genome short-read genome-wide

• Cancer genome standards for long-read sequencing using cancer cell line mixtures.

  PMID 41934171 · PMC13137868 · GigaScience · 2026 · 8 claims · 6 setups

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  Long-read variant calling tools achieve recall rates comparable to short-read gold standards

  colo829 same whole-genome short-read 5mc

• Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.

  PMID 42058905 · PMC13122676 · iScience · 2026 · 8 claims · 7 setups

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  RIST, a new pipeline combined with GRIPper, refines retrocopy insertion site breakpoints and target-site duplication (TSD) detection, improving on existing tools (GRIPper2, sideRETRO)

  paired tool escc parent whole-genome nanopore sequencing

• Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

  PMID 41872207 · PMC13171879 · Nature communications · 2026 · 8 claims · 7 setups

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  A sequential sequencing strategy (WES→WGS→RNA-seq→NLR-seq) identifies COL4A3/COL4A4/COL4A5 variants in 509/555 (91.7%) of Alport syndrome patients

  chinese prediction-negative randomly minigene whole-exome whole-genome sequencing

• Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

  PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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  The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

  genomic proband blood patients pcr long-range combined

• Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

  PMID 41986690 · PMC13175891 · Nature genetics · 2026 · 8 claims · 8 setups

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  Predicted deleterious somatic variants in ALS/FTD genes were found in 2.1% of sporadic ALS/FTD cases lacking pathogenic or predicted deleterious germline variants

  postmortem same mip rna-seq mip germline repeat-primed

• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

  PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups

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  Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity

  blood-derived blood crisp father mlpa long-range field

• Performance of mitochondrial DNA mutations detecting early stage cancer.

  PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

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  The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

  matched blood mtdna low-quantity mitochondrial capillary str