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).

• Determination of complete chromosomal haplotypes by bulk DNA sequencing.

  PMID 33957932 · PMC8101039 · Genome biology · 2021 · 8 claims · 8 setups

  Has reproduction · 97

  A hierarchical computational strategy that first builds high-confidence local haplotype blocks from long-range/linked-read linkage and then concatenates them into whole-chromosome haplotypes using Hi-C contacts

  rpe-1 na12878 aneuploid linked-read hi-c bulk

• Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

  PMID 15743496 · PMC1064127 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

  Full-text index only

  A common BRCA1 haplotype (haplotype 2, C A G G) is associated with a modest increase in sporadic breast cancer risk

  individuals nested same nurses whole-gene snp statistical

• Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.

  PMID 15850495 · PMC1090572 · BMC genetics · 2005 · 8 claims · 6 setups

  Full-text index only

  Haplotype block definitions based on LD measures (Definitions 1, 2, 3, 5) produce fewer, shorter blocks with limited sequence coverage compared to the haplotype diversity-based method (Definition 4)

  unrelated same snps haplotype snp haplotype pairwise

• Assaying chromosomal inversions by single-molecule haplotyping.

  PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups

  Full-text index only

  Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype

  genomic yac haplotype pulsed template

• Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

  PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

  Full-text index only

  Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

  french index unaffected mutation-carrier mutation microsatellite haplotype

• Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.

  PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups

  Full-text index only

  Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb

  eye genomic tnnt1 cdna genomic snp

• A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

  PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

  Full-text index only

  A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

  genomic tulp1 y79 haplotype direct mismatch-primer

• Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.

  PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups

  Full-text index only

  Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.

  blood genotype hla-drb1*0301 drb1*0301-carrying pcr-rflp pcr haplotype

• Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

  PMID 19907653 · PMC2771352 · PloS one · 2009 · 8 claims · 7 setups

  Full-text index only

  IL10 haplotype 1 (rs1800871, rs1800872, rs3024490, rs1554286) is associated with a pro-inflammatory ex vivo cytokine response (lower IL-10, higher TNF-alpha) relative to the population mean

  population blood genomic hapmap snp survival allele

• Haplotype frequencies at the DRD2 locus in populations of the East European Plain.

  PMID 19793394 · PMC2765450 · BMC genetics · 2009 · 8 claims · 4 setups

  Full-text index only

  The three-locus TaqI B-TaqI D-TaqI A haplotype at DRD2 constitutes a powerful genetic marker reflecting the most ancient dispersal of anatomically modern humans

  genomic genotype rflp haplotype pcr-rflp hardy-weinberg pairwise

• The genome sequence of Menetries' Clouded Yellow, Colias thisoa Ménétriès, 1832 (Lepidoptera: Pieridae).

  PMID 41716938 · PMC12914173 · Wellcome open research · 2026 · 8 claims · 7 setups

  Full-text index only

  A chromosome-level, haplotype-resolved genome assembly was generated for Colias thisoa as part of Project Psyche

  colias pacbio assembled scaffolded pacbio hi-c k-mer

• Tractor workflow: a scalable Nextflow framework for local ancestry-aware genome-wide association studies.

  PMID 41838407 · PMC13197121 · Bioinformatics (Oxford, England) · 2026 · 7 claims · 6 setups

  Full-text index only

  Developed a scalable Nextflow workflow that automates phasing, local ancestry inference (LAI), and Tractor GWAS into a reproducible end-to-end pipeline

  biobank phased two-way simulated haplotype local gwas

• Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

  PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups

  Full-text index only

  The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder

  genomic haplotype direct full

• htSNPer1.0: software for haplotype block partition and htSNPs selection.

  PMID 15740612 · PMC1274247 · BMC bioinformatics · 2005 · 6 claims · 1 setups

  Full-text index only

  The GBB algorithm finds the globally optimal minimal htSNP set with far less computing time than exhaustive/enumeration search.

  chromosome haplotype

• A haplotype-resolved genome assembly of the bocaccio rockfish, Sebastes paucispinis.

  PMID 40323688 · PMC12584591 · The Journal of heredity · 2025 · 6 claims · 8 setups

  Has reproduction · 99

  This paper presents the first de novo, haplotype-resolved reference-quality genome assembly of Sebastes paucispinis (bocaccio rockfish).

  sebastes assembled pacbio omni-c k-mer

• The genome sequence of the Madeiran Speckled Wood, Pararge xiphia Hübner, 1819 (Lepidoptera: Nymphalidae).

  PMID 41908930 · PMC13022564 · Wellcome open research · 2026 · 6 claims · 8 setups

  Full-text index only

  A chromosome-level genome assembly was generated for a male Pararge xiphia specimen, containing two haplotypes of 528.41 Mb and 523.51 Mb

  organism pacbio assembled pacbio hi-c k-mer

• The genome sequence of a window fly, Scenopinus jerei Pohjoismäki & Haarto, 2021 (Diptera: Scenopinidae).

  PMID 41953045 · PMC13054250 · Wellcome open research · 2026 · 8 claims · 8 setups

  Full-text index only

  This assembly provides the first genomic resource for the family Scenopinidae (window flies)

  organism idscejere3 assembled pacbio hi-c rna-seq

• The genome sequence of the Woodland Grayling, Hipparchia fagi (Scopoli, 1763) (Lepidoptera: Nymphalidae).

  PMID 42078576 · PMC13133624 · Wellcome open research · 2026 · 8 claims · 8 setups

  Full-text index only

  A chromosome-level, haplotype-resolved genome assembly was produced for Hipparchia fagi (Woodland Grayling) as part of Project Psyche.

  organism pacbio computational assembled pacbio hi-c k-mer

• The genome sequence of the Figwort Mason Wasp, Symmorphus gracilis (Brulle, 1832) (Hymenoptera: Vespidae).

  PMID 42109708 · PMC13153769 · Wellcome open research · 2026 · 6 claims · 8 setups

  Full-text index only

  A chromosome-level genome assembly was generated for Symmorphus gracilis, comprising two haplotypes (220.03 Mb and 217.14 Mb), with haplotype 1 scaffolded to 6 chromosomal pseudomolecules

  symmorphus head genomic hifi barcoding hmw pacbio

• The genome sequence of the Atlantic white-sided dolphin, Leucopleurus acutus (Gray, 1828) (Artiodactyla: Delphinidae).

  PMID 42116831 · PMC13157609 · Wellcome open research · 2026 · 8 claims · 7 setups

  Full-text index only

  A chromosomal-level genome assembly was produced for Leucopleurus acutus (Atlantic white-sided dolphin) as part of the Darwin Tree of Life project

  leucopleurus pacbio hi-c rna-seq