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).

• Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

  PMID 17608949 · PMC1934372 · BMC genomics · 2007 · 7 claims · 5 setups

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  Developed a statistical model-fitting method to infer generalized (multi-allelic, copy-number-aware) genotypes from raw SNP microarray data

  individuals mother-father-child transcribed snp quantitative multiplex

• Reconstructing the evolution of the mitochondrial ribosomal proteome.

  PMID 17604309 · PMC1950548 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  The ancestral mitoribosome was of alpha-proteobacterial descent and more than doubled its protein content in most eukaryotic lineages.

  proteomes eukaryotic aligned alignments iterative hmm-based neighbor-joining

• In silico comparative genomic analysis of GABAA receptor transcriptional regulation.

  PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups

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  Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes

  subunit mammalian α1-β2-γ2-α6 cross-species promoter transcription

• Fast-evolving noncoding sequences in the human genome.

  PMID 17578567 · PMC2394770 · Genome biology · 2007 · 8 claims · 6 setups

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  1,356 conserved noncoding sequences show human-specific accelerated substitution rates (ANC sequences) relative to chimpanzee

  chimpanzee genome hapmap comparative genomic segmental

• Comparative genomic analysis of three Leishmania species that cause diverse human disease.

  PMID 17572675 · PMC2592530 · Nature genetics · 2007 · 8 claims · 6 setups

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  L. infantum and L. braziliensis genomes were sequenced and show marked conservation of synteny with L. major, with only ~200 genes differentially distributed among the three species

  infantum major braziliensis leishmania whole-genome comparative pcr

• CanPredict: a computational tool for predicting cancer-associated missense mutations.

  PMID 17537827 · PMC1933186 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  CanPredict is a web application providing public access to a random forest classifier that combines SIFT, LogR.E-value, and GOSS scores to predict whether a missense mutation is cancer-associated

  missense observed sjoblom refseq cross-validation recurrence comparative

• Genome-wide identification of specific oligonucleotides using artificial neural network and computational genomic analysis.

  PMID 17518996 · PMC1892811 · BMC bioinformatics · 2007 · 7 claims · 4 setups

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  The IAB algorithm (integration of ANN and BLAST) identifies genome-wide specific oligos much faster than pure BLAST search while maintaining comparable success rate and cross homology

  tigr xanthomonas xcc ann wu-blast whole-genome

• Activation-induced cytidine deaminase acts as a mutator in BCR-ABL1-transformed acute lymphoblastic leukemia cells.

  PMID 17485517 · PMC2118573 · The Journal of experimental medicine · 2007 · 8 claims · 8 setups

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  AID mRNA is aberrantly expressed in Ph+ ALL but largely absent in Ph- ALL

  normal ph+ semiquantitative western rt-pcr

• Error-pooling-based statistical methods for identifying novel temporal replication profiles of human chromosomes observed by DNA tiling arrays.

  PMID 17430969 · PMC1888820 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  Developed an LPE-based error-pooling and weighted ANOVA modeling approach for statistical analysis of high-density tiling array data

  cell-cycle-synchronized hela computational differentially tiling cdna statistical

• Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.

  PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups

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  Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains

  minimally-passaged pylori coli arginase urease heterologous

• Array-based profiling of reference-independent methylation status (aPRIMES) identifies frequent promoter methylation and consecutive downregulation of ZIC2 in pediatric medulloblastoma.

  PMID 17344319 · PMC1874664 · Nucleic acids research · 2007 · 7 claims · 7 setups

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  aPRIMES is a novel array-based method that detects direct (absolute) methylation status of CGIs via competitive hybridization of McrBC-digested (methylated) versus HpaII/BstUI-digested (unmethylated) DNA from the same genome, avoiding reference-tissue and copy-number biases

  pediatric tumor eight desmoplastic aprimes bisulfite quantitative

• Relative impact of nucleotide and copy number variation on gene expression phenotypes.

  PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups

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  SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression

  lymphoblastoid same computational subset gene snp array

• An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.

  PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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  Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together

  private disease uniprot snps database controlled sequence

• Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

  PMID 19099557 · PMC2630295 · Cardiovascular ultrasound · 2008 · 8 claims · 4 setups

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  HCM and about 50% of idiopathic DCM are familial diseases with an autosomal dominant pattern of inheritance

  patients families genetic 2-dimensional cardiac

• targetTB: a target identification pipeline for Mycobacterium tuberculosis through an interactome, reactome and genome-scale structural analysis.

  PMID 19099550 · PMC2651862 · BMC systems biology · 2008 · 8 claims · 8 setups

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  A comprehensive in silico target identification pipeline (targetTB) integrating interactome, reactome, essentiality, sequence and structural analyses can identify high-confidence drug targets for Mtb

  tuberculosis mtb protein-protein flux transposon

• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

  PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

  at-risk eyes blood bbs7 clinical ophthalmologic genetic

• 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

• TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

  PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups

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  Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families

  consanguineous genomic hek293a hek293 genome sanger calcium

• Public health genomics: translating obesity genomics research into population health benefits.

  PMID 19037221 · PMC2736102 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 6 setups

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  Obesity genomics research is mostly in the discovery phase (T1); a four-phase translational framework (T1-T4) is needed to move discoveries to population health impact

  populations white mice humans genetic pharmacogenetic gene-by-environment

• Considerations regarding the genetics of obesity.

  PMID 19037210 · PMC2682366 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups

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  Genetic factors account for 40-70% of the variance in human adiposity

  monozygotic subjects european children twin genome-wide association