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).

• Heterogeneous genomic molecular clocks in primates.

  PMID 17029560 · PMC1592237 · PLoS genetics · 2006 · 7 claims · 7 setups

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  Non-CpG site substitutions show clear generation-time dependency, consistent with a replication-error origin

  baboon chimpanzee same human-chimpanzee relative phylogenetic four-species

• Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

  PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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  Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

  south genomic family genetic direct bioinformatic

• High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.

  PMID 16432260 · PMC1345698 · Nucleic acids research · 2006 · 8 claims · 5 setups

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  A 96-well high-throughput bisulfite modification (HTBM) method was developed and validated against single-sample bisulfite modification (SSBM), producing comparable methylation results even from as little as 3 ng DNA.

  genomic normal advanced bisulfite-treated methylation-specific bisulfite snp

• 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

• Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

  PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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  A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

  enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding

• Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.

  PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups

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  The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%

  genomic hapmap 150-kb alpha-defensin pcr-rflp snp linkage

• Genome-wide identification of in vivo protein-DNA binding sites from ChIP-Seq data.

  PMID 18684996 · PMC2532738 · Nucleic acids research · 2008 · 8 claims · 7 setups

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  SISSRs identifies binding sites from ChIP-Seq short reads with much higher resolution than the standard region-clustering approach

  cd4+ jurkat hela computational chip-seq novo motif

• 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

• Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier.

  PMID 18654618 · PMC2442658 · PLoS genetics · 2008 · 8 claims · 5 setups

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  Loss of AGG interruptions in CGG repeat tracts predisposes FMR1 alleles to instability and faster progression toward premutation/disease state

  fmr1 xq28 genome agg fluorescence genome-wide

• Correlation between pre-treatment quasispecies complexity and treatment outcome in chronic HCV genotype 3a.

  PMID 18613968 · PMC2483966 · Virology journal · 2008 · 7 claims · 7 setups

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  Quasispecies complexity and diversity within HVR1 are lower in the SVR group than in the TF group

  serum hvr1 svr rt-pcr shannon hamming

• Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report.

  PMID 18513421 · PMC2426714 · Retrovirology · 2008 · 7 claims · 6 setups

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  HIV-1 quasispecies in PBMCs are more genetically heterogeneous than in plasma

  plasma proviral cloned pbmc hiv-1 nested clonal

• Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.

  PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups

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  emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection

  streptococcus pyogenes emm values multilocus emm comparative

• Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.

  PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS

  peripheral blood pooled trio gene quantitative promoter

• A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

  PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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  Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

  patients multiplex index pedigree genome-wide fine-mapping haplotype

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

  PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

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  A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

  family k4425 embryonic scn9a-n641y linkage copy deletion

• The origins of lactase persistence in Europe.

  PMID 19714206 · PMC2722739 · PLoS computational biology · 2009 · 8 claims · 5 setups

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  The −13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly linked to the Linearbandkeramik culture.

  simulated simulation 910*t farming demic approximate comparison

• Analysis of virulence factors of Helicobacter pylori isolated from a Vietnamese population.

  PMID 19698173 · PMC2739534 · BMC microbiology · 2009 · 8 claims · 5 setups

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  Three distinct deletion patterns (39-bp, 18-bp, no deletion) exist upstream of the cagA EPIYA repeat region (pre-EPIYA region), providing a novel genotyping marker.

  pylori gastric pcr sequence comparative

• Hepatitis B virus genotypes/subgenotypes in voluntary blood donors in Makassar, South Sulawesi, Indonesia.

  PMID 19691824 · PMC2732614 · Virology journal · 2009 · 7 claims · 5 setups

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  HBV/B and HBV/C are the dominant genotypes among HBsAg-positive blood donors in Makassar

  serum hbv pre-s genotype-specific nested complete

• Protocadherin PCDH10, involved in tumor progression, is a frequent and early target of promoter hypermethylation in cervical cancer.

  PMID 19681120 · PMC3430375 · Genes, chromosomes & cancer · 2009 · 8 claims · 5 setups

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  PCDH10 promoter hypermethylation is a frequent event in invasive cervical cancer

  invasive lines normal cervical snp methylation-specific bisulphite