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).

• 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

• HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

  PMID 17117180 · PMC2360759 · British journal of cancer · 2006 · 6 claims · 5 setups

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  Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.

  white same hapmap snp haplotype tagging

• 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

• Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

  PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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  A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

  pakistani affected unrelated one microsatellite sanger mutation

• A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

  PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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  A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

  peripheral pedigree nuclear family snp two-point multipoint

• Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

  PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups

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  A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)

  que slsj candidate skin genome-wide sanger tagging

• 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

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  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

• The impact of haplotypes derived from Chinese pigs on genetic variation and economic traits in the Duroc breed.

  PMID 41131451 · PMC12551222 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 8 setups

  Has reproduction

  Significant genetic introgression from Chinese pigs into commercial European pig lines is confirmed using SNP chip and resequencing data.

  chinese pigs duroc muscle snp genome low-coverage

• Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

  PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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  Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

  pedigrees pedigree genomic ubiad1 microsatellite fine direct

• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

  PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

  family genomic unrelated gja8 clinical microsatellite sequencing

• 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 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

• Whole genome association mapping by incompatibilities and local perfect phylogenies.

  PMID 17042942 · PMC1624851 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  Blossoc scores the perfect phylogenetic tree spanning the largest compatible region around each marker as a decision tree for case/control status to detect association

  coalescent-simulated artificial empirical same perfect-phylogeny hapminer haplotype

• Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

  PMID 18523664 · PMC2408774 · Molecular vision · 2008 · 7 claims · 3 setups

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  Linkage analysis mapped the CN disease gene to Xp22.3, with the highest two-point LOD score at marker DXS7103

  genomic linkage haplotype pcr

• 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

• A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

  PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups

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  A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01

  family genomic pcr genetic direct allele-specific

• 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 Portuguese Dappled White, Euchloe tagis (Hübner, 1804) (Lepidoptera: Pieridae).

  PMID 42028159 · PMC13100615 · Wellcome open research · 2026 · 7 claims · 8 setups

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  A chromosome-level genome assembly was generated for Euchloe tagis (Portuguese Dappled White) as part of Project Psyche

  euchloe pacbio hi-c k-mer

• More breast cancer genes?

  PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups

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  A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families

  tumours five independent ataxia-telangiectasia comparative haplotype linkage