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 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

• Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

  PMID 18193044 · PMC2682493 · Nature genetics · 2008 · 8 claims · 7 setups

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  GWAS plus targeted replication identified 18 loci reproducibly associated with LDL cholesterol, HDL cholesterol, and/or triglycerides, six of which are newly identified

  blood liver fasting genome-wide targeted liver

• Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.

  PMID 18784189 · PMC2577347 · Nucleic acids research · 2008 · 8 claims · 6 setups

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  Genomic waves are present in both Illumina and Affymetrix SNP genotyping arrays, confirming they are not platform-specific

  representative illumina six snp serial concentration

• Adaptations to climate in candidate genes for common metabolic disorders.

  PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups

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  A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.

  individuals population genic compiled snp spearman bayesian

• Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

  PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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  40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

  genomic pomt2 population genome-wide pcr multiplex

• SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

  PMID 15659576 · PMC548375 · Nucleic acids research · 2005 · 8 claims · 5 setups

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  A microarray-based method allows multiplex SNP genotyping in total human genomic DNA without target amplification or complexity reduction

  unamplified genomic fragmented factor multiplex sequencing poly

• Population carrier frequency of hMSH2 and hMLH1 mutations.

  PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups

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  Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)

  peripheral scottish finnish baltimore cdna pedigree systematic

• 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

• Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

  PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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  Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

  french index unaffected mutation-carrier mutation microsatellite haplotype

• The promise and reality of personal genomics.

  PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups

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  Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.

  ak1 six whole-genome copy-number genotyping-based

• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.

  PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups

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  BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.

  reads yoruban cytogenetically predicted simulated paired-end whole-genome

• Aberration in DNA methylation in B-cell lymphomas has a complex origin and increases with disease severity.

  PMID 23326238 · PMC3542081 · PLoS genetics · 2013 · 8 claims · 8 setups

  Has reproduction · 49

  B-cell non-Hodgkin lymphomas display striking intra-tumor (intra-sample) and inter-patient (inter-sample) cytosine methylation heterogeneity that increases progressively with disease aggressiveness (NBC<NGC<FL<GCB<ABC).

  dlbcl normal same lymphoma help errbs massarray