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 haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

  PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups

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  LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)

  genomic genotype mutation taqman association

• Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

  PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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  The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

  blood germline tumor family mutation mlpa microsatellite

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

  PMID 14562025 · PMC2394328 · British journal of cancer · 2003 · 8 claims · 4 setups

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  Women with bilateral breast cancer show greater genetic predisposition (higher family history prevalence) than women with unilateral breast cancer

  blood-derived blood random dhplc microsatellite duplicate

• Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

  PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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  kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

  germline unaffected index randomly brca1 tyrer-cuzick strp

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• 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

• Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

  PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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  The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

  hnpcc tumor yeast families germline microsatellite functional

• 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

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  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

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  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

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  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

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  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

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  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

• The genome sequence of the Clouded Buff, Diacrisia sannio (Linnaeus, 1758) (Lepidoptera: Erebidae).

  PMID 42148439 · PMC13173286 · Wellcome open research · 2026 · 8 claims · 8 setups

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  Chromosome-level genome assembly generated for Diacrisia sannio with two haplotypes of 722.98 Mb and 724.10 Mb

  diacrisia pacbio hi-c k-mer

• The genome sequence of a muscid fly, Phaonia angelicae (Scopoli, 1763) (Diptera: Muscidae).

  PMID 42255360 · PMC13234548 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A chromosome-level genome assembly was generated for Phaonia angelicae, a muscid fly, as part of the Darwin Tree of Life project.

  phaonia pacbio hi-c k-mer

• Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

  PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  PITX1 polymorphisms and haplotypes are significantly associated with autism

  agre pitx1 parental family-based extended haplotype

• BCoR-L1 variation and breast cancer.

  PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

  PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups

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  Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients

  patients nd10588 lymphoblastoid neuroglioma sanger taqman copy-number

• Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

  PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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  Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

  genomic family carrier jarid1c dhplc allele-specific restriction