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

• DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists.

  PMID 17576678 · PMC1933169 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  The DAVID Gene Concept uses a single-linkage method to agglomerate tens of millions of gene/protein identifiers from NCBI, PIR, UniProt and other resources into unified DAVID genes.

  gene example gene single-linkage functional

• Combining transcriptional profiling and genetic linkage analysis to uncover gene networks operating in hematopoietic stem cells and their progeny.

  PMID 18560825 · PMC2493868 · Immunogenetics · 2008 · 8 claims · 8 setups

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  Neither transcriptional profiling alone nor genetic linkage analysis alone has been an effective approach to identify genes or gene networks that specify stemness or initiate differentiation/lineage specification.

  escs fibroblasts hematopoietic bxd transcriptional forced long-term

• A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

  PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

  three-generation genomic crybb1 family genotyping direct restriction

• Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.

  PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups

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  Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable

  mexican extracted same structural genotyping heritability

• Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.

  PMID 18553462 · PMC2630518 · Birth defects research. Part A, Clinical and molecular teratology · 2008 · 7 claims · 3 setups

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  NNMT was identified in a genome-wide linkage scan (Souto et al., 2005) as an important regulator of plasma homocysteine concentration in a Spanish population.

  infants infant same snp case-control haplotype

• Tipping the balance in autoimmune disease.

  PMID 18001485 · PMC2246277 · Genome biology · 2007 · 8 claims · 8 setups

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  Human autoimmune diseases are fundamentally diseases of immune dysfunction, evidenced by predisposing genes being immune-function genes, some shared and some unique across MS, T1D, SLE, CD and RA

  patients congenic nzm2410 mrl-lpr snp induced genetic

• A comparative study on recombination activity in cattle.

  PMID 41942849 · PMC13067647 · Genetics, selection, evolution : GSE · 2026 · 8 claims · 8 setups

  Has reproduction · 93

  Genotype data with high systematic missingness across breeds and arrays can be streamlined and analysed with three complementary recombination-estimation approaches (HMM-based LINKPHASE3, deterministic hsphase, likelihood-based hsrecombi)

  six paternal alphasimr-simulated brown snp recombination simulation

• 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

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  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

• Genomic screen for loci associated with tobacco usage in Mission Indians.

  PMID 16472381 · PMC1386651 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Regular tobacco use (h2=0.37±0.11) and persistent tobacco use (h2=0.34±0.12) are moderately heritable in this Mission Indian sample

  mission pedigrees same participants genotyping multipoint heritability

• Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

  PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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  DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

  extremely families genome sanger case-control family-based

• Metabolic syndrome: from epidemiology to systems biology.

  PMID 18852695 · PMC2829312 · Nature reviews. Genetics · 2008 · 8 claims · 8 setups

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  MetSyn component traits (obesity, insulin resistance, dyslipidaemia, hypertension) exhibit causal interactions and common etiologies rather than being independent conditions

  populations rats adipose four genome-wide linkage gene

• Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.

  PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups

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  Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs

  genomic commercial plco unrelated targeted long-range genotyping

• The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.

  PMID 18460190 · PMC2391158 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  A novel candidate-gene selection strategy combining unbiased schizophrenia expression/linkage data with the estrogen hypothesis as a biological filter identifies glycolysis as a candidate pathway network for schizophrenia

  case-control same compilation snp haplotype pairwise

• Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.

  PMID 15826305 · PMC1087836 · BMC bioinformatics · 2005 · 8 claims · 3 setups

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  Statistical Viewer is a plug-in package for Ensembl that displays disease study-specific linkage and/or association data as 2D plots within Ensembl's Contig View and Cyto View pages.

  genome decode ensembl marker-to-genome genetic-to-physical linkage

• Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.

  PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups

  Has reproduction · 80

  AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.

  b.g parental nicotiana benthamiana qtl comparative rna-sequencing

• Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

  PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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  Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

  peripheral ceph individuals cases strp genotyping fluorescent

• Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

  PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups

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  GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region

  caucasian same subjects xenopus snp linkage haplotype

• Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.

  PMID 16733551 · PMC1464829 · PLoS genetics · 2006 · 8 claims · 5 setups

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  Highly polymorphic, multiallelic DNA markers spaced across the genome could be used to build a complete human genetic linkage map

  families bacteria genome family genetic transposon

• EPGD: a comprehensive web resource for integrating and displaying eukaryotic paralog/paralogon information.

  PMID 17984073 · PMC2238967 · Nucleic acids research · 2008 · 8 claims · 8 setups

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  EPGD is a gene-centered, internet-accessible database integrating paralog family and paralogon information for 26 eukaryotic genomes.

  sequences homologous proteins coding pairwise single sequence