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).

• Analysis of sequence conservation at nucleotide resolution.

  PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups

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  SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.

  encode population comparative snp functional

• Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.

  PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups

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  Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations

  population serum genomic epidemiological enzymatic immunoturbidimetric

• Comparative genomic study reveals a transition from TA richness in invertebrates to GC richness in vertebrates at CpG flanking sites: an indication for context-dependent mutagenicity of methylated CpG sites.

  PMID 19329065 · PMC5054122 · Genomics, proteomics & bioinformatics · 2008 · 8 claims · 8 setups

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  Nucleotide preference at CpG flanking sites transitions from 5' T (invertebrates) to 5' A (vertebrates) at the invertebrate-vertebrate boundary

  genomes same pufferfish elegans nucleotide genome-wide kruskal-wallis

• Spinocerebellar ataxia type 23: a genetic update.

  PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups

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  The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.

  members post-mortem candidate coding genome-wide neuropathological southern

• A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

  PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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  The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

  four-generation bfsp2 wild-type microsatellite direct denaturing

• Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.

  PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups

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  Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different

  sperm donor hgr1b3 single-molecule fluorescent radioactive

• Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.

  PMID 18831734 · PMC2566985 · BMC evolutionary biology · 2008 · 8 claims · 6 setups

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  CHEK2 is present as a single copy in New World monkeys, Old World monkeys, and gibbons

  metaphase chek2 blood-derived y-chromosomal comparative phylogenetic inter-species

• Kinetoplastid genomics: the thin end of the wedge.

  PMID 18675383 · PMC2676795 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2008 · 8 claims · 8 setups

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  Completion of the T. brucei, T. cruzi, and L. major genome sequencing projects enabled numerous studies that would otherwise have been difficult or impossible.

  brucei major cruzi kinetoplastid whole-genome gene shotgun

• Genomic structure and expression of Jmjd6 and evolutionary analysis in the context of related JmjC domain containing proteins.

  PMID 18564434 · PMC2453528 · BMC genomics · 2008 · 8 claims · 6 setups

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  Jmjd6 has been misleadingly annotated as a transmembrane receptor for engulfment of apoptotic cells; recent evidence contradicts this transmembrane receptor function

  species genomic jmjd6 jmjc reciprocal comparative est

• Predicting failure rate of PCR in large genomes.

  PMID 18492719 · PMC2441781 · Nucleic acids research · 2008 · 7 claims · 8 setups

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  The number of predicted primer-binding sites in genomic DNA is the most important factor determining PCR failure.

  genomic genome pcr combined large-scale exact-match mismatch-tolerant

• Human and mouse introns are linked to the same processes and functions through each genome's most frequent non-conserved motifs.

  PMID 18450818 · PMC2425492 · Nucleic acids research · 2008 · 8 claims · 5 setups

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  Pyknons (recurrent, genome-specific, ≥16nt motifs with ≥30 intact intergenic/intronic copies and ≥1 exonic copy) span a substantial fraction of previously uncharacterized intronic space (7.4% human, 4.4% mouse)

  pyknon computational comparative term

• ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

  PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups

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  Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH

  ductal same sporadic paired cdna quantitative genotyping

• 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

• Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

  PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

  blood-derived case-control pcr-rflp direct pcr-based

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

  PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129

  vcjd scjd scottish controls pcr-rflp full chi-squared

• Complex landscapes of somatic rearrangement in human breast cancer genomes.

  PMID 20033038 · PMC3398135 · Nature · 2009 · 8 claims · 6 setups

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  There are more somatic rearrangements in some breast cancers than previously appreciated by cytogenetic methods.

  breast subset confirmed paired-end fish exon-exon

• Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.

  PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups

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  Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb

  hek293 mrc5 pcr single single-molecule southern direct

• Tandem repeats modify the structure of human genes hosted in segmental duplications.

  PMID 19954527 · PMC2812944 · Genome biology · 2009 · 8 claims · 6 setups

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  Around 7% of primate-specific genes located within segmental duplications contain variable internal tandem repeats (ITRs).

  genome genomic est paired genome-wide comparative cnv

• A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.

  PMID 19923232 · PMC2817484 · Nucleic acids research · 2010 · 8 claims · 7 setups

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  A Perl-based pipeline that BLASTs/BLATs Illumina probe sequences against genomes and transcript databases (RefSeq, UCSC Known Genes, UniGene/GenBank, Ensembl) can classify probes by quality grade (Perfect/Good/Bad/No match) and is applicable across 8 BeadArray platforms and other array types

  maqc hepatocytes japanese illeum microarray dasl sequence