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).

• Developmental hematopoietic stem cell variation explains clonal hematopoiesis later in life.

  PMID 39592593 · PMC11599844 · Nature communications · 2024 · 8 claims · 2 setups

  Has reproduction · 90

  Weak selection conferred by HSC variation created before birth can reliably yield clonal hematopoiesis later in life, demonstrated via shared prenatal circulation of monozygotic (MZ) twins.

  blood simulated fluctuating single-cell

• ADZE: a rarefaction approach for counting alleles private to combinations of populations.

  PMID 18779233 · PMC2732282 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 2 setups

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  A generalized rarefaction-based statistic can estimate the sample size-corrected number of distinct alleles private to any combination of populations, generalizing Kalinowski's (2004) private allelic richness to groups of populations.

  populations simulated microsatellite computational

• An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

  PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups

  Full-text index only

  A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.

  genomic family pcr clinical

• A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

  PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups

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  HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.

  blood-derived simulated genome-wide simulation-based

• Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

  PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups

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  No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours

  reamplified same brain healthy sscp direct microsatellite

• Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

  PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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  The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

  bac heart ccs genomic genomic rt-pcr transcription

• A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.

  PMID 15592405 · PMC2263125 · Nature · 2004 · 8 claims · 8 setups

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  A genetic variation map of 2.8 million SNPs was constructed for chicken by comparing 3 domestic breeds to Red Jungle Fowl

  domestic red same white partial comparative pcr

• Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

  PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups

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  MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments

  blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp

• Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

  PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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  Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

  build chimpanzee unrelated ceph comparative three-color pcr

• Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.

  PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups

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  L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes

  hg16 genomic individuals element computational pcr pcr-based

• Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

  PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups

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  A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.

  asian random subjects unrelated arms-pcr msei sanger

• A modified T-test feature selection method and its application on the HapMap genotype data.

  PMID 18267305 · PMC5054219 · Genomics, proteomics & bioinformatics · 2007 · 7 claims · 4 setups

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  A modified t-test ranking measure, extended to handle nominal SNP genotype data via vector transformation, can effectively rank SNPs by their discriminative capability for population classification.

  hapmap modified f-statistics informativeness

• Population genomics of human gene expression.

  PMID 17873874 · PMC2683249 · Nature genetics · 2007 · 8 claims · 8 setups

  Full-text index only

  Gene expression levels in lymphoblastoid cell lines are a heritable trait

  ebv-transformed ceu lymphoblastoid unrelated genome-wide custom cis-eqtl

• Sequence polymorphisms cause many false cis eQTLs.

  PMID 17637838 · PMC1906859 · PloS one · 2007 · 8 claims · 7 setups

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  Many reported local/cis eQTLs are false positives caused by probe-region sequence polymorphisms affecting hybridization rather than true cis-regulatory expression differences.

  lymphoblastoid hematopoietic caenorhabditis genome anova-based sanger eqtl

• Identification of common genetic variation that modulates alternative splicing.

  PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

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  Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

  ceph lcls skipped additional rt-pcr snp resequencing

• Large genomic rearrangements in the CFTR gene contribute to CBAVD.

  PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

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  Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

  genomic pcr cftr semi-quantitative junction direct

• Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample.

  PMID 19052543 · PMC2879626 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 8 setups

  Full-text index only

  The interaction between SNP3^G+ genotypes and SNP8^T/T genotype significantly increases risk for cocaine dependence in EA family and EA case-control samples.

  family case-control pooled unrelated snp family-based case-control

• The EPHA2 gene is associated with cataracts linked to chromosome 1p.

  PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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  A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

  family case-control genome-wide str pcr

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

  Full-text index only

  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

  PMID 18768181 · PMC2699582 · Atherosclerosis · 2009 · 8 claims · 6 setups

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  COX-2 promoter SNP rs689466 is associated with lower coronary calcified plaque (CorCP)

  whole-blood-derived subjects dhs unrelated snp coronary carotid