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).

• Phylogeography of mtDNA haplogroup R7 in the Indian peninsula.

  PMID 18680585 · PMC2529308 · BMC evolutionary biology · 2008 · 8 claims · 7 setups

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  R7a1, a recently derived sub-branch of haplogroup R7, is particularly frequent among Munda-speaking tribal groups

  mtdnas haplogroup genetic geographic complete hvs-i reduced-median

• Genetic differences between avian and human isolates of Candida dubliniensis.

  PMID 19788816 · PMC2819872 · Emerging infectious diseases · 2009 · 7 claims · 6 setups

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  13 of 14 avian-associated C. dubliniensis isolates form a genetically distinct subgroup within MLST clade C1, separate from human isolates

  candida fecal avian-associated multilocus pcr multiplex

• 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

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  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

• The Genographic Project public participation mitochondrial DNA database.

  PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups

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  The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.

  buccal reference entire direct coding-region leave-one-out

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• 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

• Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

  PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups

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  Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)

  family p2ry5 affected snp microsatellite sanger

• Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.

  PMID 18588689 · PMC2474586 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  A region spanning the gene RAI and the 5' portion of XPD is associated with postmenopausal breast cancer

  peripheral genomic genotype independent linkage targeted genotyping

• QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

  PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)

  genomic same pseudo-normal artificially snp fish molecular

• Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

  PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups

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  Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.

  european-american yoruban japanese case sanger snp linkage

• Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.

  PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups

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  Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip

  southern same subjects genotype tag taqman dual-energy

• 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

• Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

  PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups

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  NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.

  mandenka worldwide hapmap nat2 full snp analysis

• 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

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  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

• Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters.

  PMID 36869353 · PMC9983196 · Genome biology · 2023 · 8 claims · 5 setups

  Has reproduction · 64

  HiCFlow, a new bioinformatic pipeline, performs de novo haplotype assembly, phasing, and visualization of allele-specific (parental) chromatin conformation directly from Hi-C data without requiring pre-phased haplotypes.

  1-7hb2 gm12878 imr-90 lines region hi-c genome-wide

• An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.

  PMID 16532062 · PMC1391920 · PLoS genetics · 2006 · 8 claims · 5 setups

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  CEU HapMap-derived tSNPs capture most of the genetic variation observed in the Estonian (EGP) population sample

  individuals hapmap egp snp tag median-joining

• A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.

  PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups

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  A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy

  african index cyp2c9 study pyrosequencing pcr custom

• A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

  PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups

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  A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.

  patients genomic family cerkl ophthalmic homozygosity multipoint

• Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.

  PMID 18842150 · PMC2577186 · BMC microbiology · 2008 · 7 claims · 8 setups

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  MDA-amplified DNA from minute gastric biopsy specimens enables concurrent PCR-based genotyping of bacterial (H. pylori) and human host genes from a single DNA source

  mda-amplified pylori-positive multiplex pyrosequencing pcr

• 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