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 common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

  PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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  All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

  melanoma-prone haplotype microsatellite maximum

• Gene function in the mammalian genome, courtesy of the mouse.

  PMID 12537544 · PMC151280 · Genome biology · 2003 · 8 claims · 8 setups

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  Mosaicism of Mus musculus domesticus and Mus musculus musculus haplotypes exists across the inbred laboratory mouse genome, and genome-wide haplotype mapping can enhance positional cloning

  inbred genome mice model genome-wide large-scale phenotypic

• The genome sequence of the Gold Spangle, Autographa bractea (Denis & Schiffermüller), 1775 (Lepidoptera: Noctuidae).

  PMID 41710118 · PMC12910202 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A chromosome-level, haplotype-resolved genome assembly was produced for Autographa bractea (Gold Spangle)

  autographa pacbio hi-c k-mer

• The genome sequence of the Mediterranean Skipper, Gegenes nostrodamus (Fabricius, 1793) (Lepidoptera: Hesperiidae).

  PMID 41908929 · PMC13019046 · Wellcome open research · 2026 · 6 claims · 7 setups

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  A chromosome-level genome assembly was generated for Gegenes nostrodamus (Mediterranean Skipper) as part of Project Psyche.

  gegenes pacbio hi-c k-mer

• The genome sequence of the Common Mummy Wasp, Aleiodes similis (Curtis, 1834) (Hymenoptera: Braconidae).

  PMID 41938269 · PMC13049424 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A genome assembly was generated for an individual female Aleiodes similis (Common Mummy Wasp), containing two haplotypes with total lengths of 280.83 Mb and 284.39 Mb

  aleiodes pacbio hi-c rna-seq

• The genome sequence of Schreibers's Long-fingered Bat, Miniopterus schreibersii (Kuhl, 1817) (Chiroptera: Miniopteridae).

  PMID 42180417 · PMC13197751 · Wellcome open research · 2026 · 8 claims · 7 setups

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  A chromosome-level genome assembly was produced for Miniopterus schreibersii from a single male individual, comprising two phased haplotypes.

  miniopterus assembled pacbio hi-c rna-seq

• Optimal step length EM algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping.

  PMID 12529185 · PMC149347 · BMC bioinformatics · 2003 · 5 claims · 4 setups

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  OSLEM (Optimal Step Length EM), which approximates an optimal step length via a fixed-point search (D_N = D_{N-1} + λ(D_preN - D_{N-1})), runs about twice as fast as standard EM while producing the same haplotype frequency estimates.

  real tailored blood algorithm snp

• Analysis of concordance of different haplotype block partitioning algorithms.

  PMID 16356172 · PMC1343594 · BMC bioinformatics · 2005 · 7 claims · 7 setups

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  Each block partitioning algorithm infers blocks differing in number, size, and coverage under different SNP density and allele frequency conditions.

  simulated subsamples coalescent diversity-based ld-based

• Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

  PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups

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  NAT2 variants are homogeneously distributed across native populations of the American continent

  chromosomes same inferred american pcr statistical haplotype

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• CCL genes in multiple sclerosis and systemic lupus erythematosus.

  PMID 18602166 · PMC5301077 · Journal of neuroimmunology · 2008 · 7 claims · 5 setups

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  Previously suggested borderline CCL marker/haplotype associations with MS are rejected after Bonferroni correction for multiple testing

  genomic patients 17q11.2-q12 buccal snp linkage hardy-weinberg

• Association of the MAPT locus with Parkinson's disease.

  PMID 19912324 · PMC3906622 · European journal of neurology · 2010 · 7 claims · 5 setups

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  H1/H2-tagging SNPs rs1052553 (MAPT) and rs62063857 (Saitohin/STH) are significantly associated with increased risk of PD

  patients caucasian snp haplotype linkage

• Genomic views of distant-acting enhancers.

  PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups

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  Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.

  genome patients embryos ret gwas targeted transgenic

• WEPP: Phylogenetic placement achieves near-haplotype resolution in wastewater-based epidemiology.

  PMID 41911220 · PMC13048486 · PLoS computational biology · 2026 · 8 claims · 5 setups

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  WEPP is a pathogen-agnostic pipeline that uses phylogenetic placement of sequencing reads onto mutation-annotated trees (MATs) to identify candidate haplotypes and estimate their abundances

  sars-cov-2 mutation-annotated simulated synthetic real-world

• The fungal pathogen Rhizoctonia solani AG-8 has 2 nuclear haplotypes that differ in abundance.

  PMID 41124349 · PMC12774589 · G3 (Bethesda, Md.) · 2026 · 8 claims · 8 setups

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  R. solani isolates AG8-1 and AG8-3 each possess 2 distinct nuclear haplotypes, each ~50 Mbp assembled into 16 chromosomes

  solani ag8-1 rhizoctonia annotated pacbio hi-c stranded

• The genome sequence of True's beaked whale, Mesoplodon mirus True, 1913 (Artiodactyla: Ziphiidae).

  PMID 41625987 · PMC12853023 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A genome assembly is presented for an individual female Mesoplodon mirus (True's beaked whale)

  mesoplodon pacbio hi-c sequencing

• The genome sequence of the cryptorhynchine weevil, Kyklioacalles roboris (Stüben, 2003) (Coleoptera: Curculionidae).

  PMID 41696497 · PMC12895102 · Wellcome open research · 2026 · 7 claims · 8 setups

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  A chromosome-level genome assembly was produced for the cryptorhynchine weevil Kyklioacalles roboris

  kyklioacalles pacbio hi-c k-mer

• The genome sequence of the Short-tailed Blue, Cupido argiades (Pallas, 1771) (Lepidoptera: Lycaenidae).

  PMID 41815329 · PMC12972722 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A chromosome-level genome assembly was produced for a female Cupido argiades specimen, comprising two haplotypes of 445.87 Mb and 384.46 Mb.

  organism pacbio assembled pacbio hi-c rna-seq

• The genome sequence of the Spanish Fritillary, Euphydryas desfontainii (Godart, 1819) (Lepidoptera: Nymphalidae).

  PMID 41835093 · PMC12988360 · Wellcome open research · 2026 · 7 claims · 8 setups

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  A chromosome-level genome assembly was produced for Euphydryas desfontainii from a single male specimen, comprising two haplotypes of 755.68 Mb and 751.57 Mb

  organism euphydryas pacbio hi-c k-mer

• The genome sequence of the Carline Skipper, Pyrgus carlinae (Rambur, 1839) (Lepidoptera: Hesperiidae).

  PMID 41841042 · PMC12989058 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A chromosome-level genome assembly was generated for a female Pyrgus carlinae specimen (ilPyrCarl1) as part of Project Psyche

  pyrgus pacbio hi-c k-mer