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).

• Reconstructing Indian population history.

  PMID 19779445 · PMC2842210 · Nature · 2009 · 8 claims · 8 setups

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  Most Indian populations descend from a mixture of two ancient, genetically divergent populations: ANI (close to Middle Easterners, Central Asians, Europeans) and ASI (as distinct from ANI and East Asians as those are from each other).

  indian pairs gujarati genome-wide principal fst-based

• Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

  PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

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  GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

  peripheral patients mtdna slc26a4 pcr pcr-based sanger

• Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

  PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

  genomic pcr patients dhplc cloning pcr-rflp

• Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

  PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups

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  A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family

  patients genomic chromosomes clinical fluorescein full-field

• Visualization of shared genomic regions and meiotic recombination in high-density SNP data.

  PMID 19696932 · PMC2725774 · PloS one · 2009 · 8 claims · 7 setups

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  SNPduo is a command-line (SNPduo++) and web-accessible tool that analyzes and visualizes relatedness between two individuals using identity by state (IBS) from SNP genotypes.

  trio family siblings synthetic snp synthetic mitochondrial

• Investigating the genetic association between ERAP1 and ankylosing spondylitis.

  PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups

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  The genetic association between ERAP1 and AS is confirmed in an independent replication cohort

  patients cases genotype comparison snp meta-analysis resequencing

• Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.

  PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups

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  Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable

  enucleated tumor anterior immunofluorescence rb1 fine-needle

• Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

  PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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  GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

  peripheral postmortem hek293 qrt-pcr microarray rt-pcr

• Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

  PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters

  genomic proband's pcr rt-pcr multiplex

• A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

  PMID 41484206 · PMC12905373 · EMBO molecular medicine · 2026 · 6 claims · 7 setups

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  INS R6C is a recessive loss-of-function mutation causing diabetes only in homozygous individuals, not a dominant mutation as previously classified.

  blood serum large-scale computational targeted autoantibody population

• MobiCT: a UMI-based circulating tumor DNA analysis pipeline.

  PMID 41503160 · PMC12770973 · NAR genomics and bioinformatics · 2026 · 7 claims · 7 setups

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  MobiCT is a Nextflow/nf-core UMI-based ctDNA pipeline (deduplication, alignment, variant calling with VarDict, annotation with VEP) achieving sensitivity, precision, and F1-score around 90% after comprehensive filtering.

  cfdna same tumor horizon targeted droplet ngs

• Integration of bioinformatic tools for the detection of SARS-CoV-2 co-infection cases.

  PMID 41609640 · PMC12856159 · Microbial genomics · 2026 · 8 claims · 8 setups

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  Sample PH-RITM-1395 represents a Delta–Omicron co-infection, confirmed by convergent evidence from Nextclade, bammix, Freyja, VirStrain, AAF analysis and amplicon sorting rather than contamination

  consensus aligned raw bam nextclade nucleotide strain-level

• RNA-Seq alignment to individualized genomes improves transcript abundance estimates in multiparent populations.

  PMID 25236449 · PMC4174954 · Genetics · 2014 · 8 claims · 7 setups

  Has reproduction · 50

  Genetic variants distinguishing an individual genome from the reference cause read misalignment and biased transcript abundance estimates, and fine-tuning of alignment algorithms does not correct this problem.

  liver genomic cast simulated bulk high-density rna-seq

• Integrated reiterative pipeline for rapid epitope-based pan-alphavirus vaccines.

  PMID 41811958 · PMC12978219 · Science advances · 2026 · 6 claims · 7 setups

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  An integrated pipeline combining ML-based epitope prediction (netMHCpan, EpiDope, BepiPred), TCRpMHC structural modeling/docking, and JessEV vaccine design can prioritize viral peptides by immunogenicity, allele coverage, solubility, and stability.

  preexposed alphaviral peptide-hla modeled peptide epitope structural

• Genetic drift acts strongly on influenza virus populations within acute human infections but is obscured by other factors within acutely infected swine.

  PMID 42027246 · PMC13100903 · Virus evolution · 2026 · 8 claims · 4 setups

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  Within-host human IAV populations have a very small effective population size (N_E = 49, 95% CI [28, 84])

  within-host swine simulated population diffusion simulation

• Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation.

  PMID 41477881 · PMC12850507 · Science (New York, N.Y.) · 2026 · 8 claims · 8 setups

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  A haplotype at the 17q22 locus, tagged by the noncoding variant rs17834140-T, is a causal protective variant against CHIP and myeloid malignancies

  population hspcs cd34+cd45ra-cd90+ heterozygous gwas atac-seq crispr

• Single-cell multiome and enhancer connectome of human retinal pigment epithelium and choroid nominate causal variants in macular degeneration.

  PMID 41528844 · PMC12971065 · Cell reports · 2026 · 8 claims · 8 setups

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  Generated a single-cell gene expression and chromatin accessibility (multiome) atlas of human RPE and choroid from control and AMD eyes

  rpe-choroid rpe arpe-19 scatac-seq joint h3k27ac activity-by-contact

• Multimodal antigenic escape to GPRC5D-targeted T cell engagers in multiple myeloma.

  PMID 41540108 · PMC13004696 · Nature medicine · 2026 · 7 claims · 7 setups

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  GPRC5D antigenic drift/mutational events occurred in 68.4% of relapsed cases following anti-GPRC5D TCE therapy (13/19 evaluable patients)

  cd138+ pbmcs cohort bulk single-cell targeted

• FOXA1 mutations co-opt nascent transcription factor networks in partnership with androgen receptor to enhance prostate tumorigenicity.

  PMID 41621066 · PMC13050545 · Cell reports · 2026 · 8 claims · 8 setups

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  FOXA1 mutations in a 874-tumor cohort cluster into missense, in-frame indel, and truncation subgroups, with indels concentrated at residues M253/E255

  prostate targeted single-nucleus scatac-seq

• Single-cell transcriptomics reveals keratinocyte dynamic processes associated with S100a4 expression in psoriasiform dermatitis.

  PMID 41660613 · PMC12876221 · Frontiers in immunology · 2025 · 7 claims · 8 setups

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  S100a4 knockout mice show significant pathological improvement in psoriasis-like lesions, including reduced inflammatory cell infiltration and decreased epidermal hyperplasia

  c57bl skin dorsal dcmo crispr western imiquimod-induced