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).

• Splicing bioinformatics to biology.

  PMID 16732900 · PMC1779529 · Genome biology · 2006 · 8 claims · 8 setups

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  Mutually exclusive selection of Dscam exon 6 variants is governed by base pairing between a conserved intronic docking site and selector sequences adjacent to each alternative exon.

  dscam alternative heterologous expressing comparative dicodon reporter

• Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.

  PMID 19744331 · PMC2749040 · BMC structural biology · 2009 · 8 claims · 1 setups

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  The simulation-derived JH1/JH2 interface provides a platform that explains the mutational effect of all tested mutants, including presumably benign controls, at the atomic level

  homology-model-derived molecular

• Spontaneous symmetry breaking in genome evolution.

  PMID 18367477 · PMC2377439 · Nucleic acids research · 2008 · 6 claims · 3 setups

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  Exon size distributions in sequenced genomes follow a lognormal pattern typical of a random Kolmogoroff fractioning process

  animal homo model genome-wide alternatively computational

• Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

  PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 5 setups

  Has reproduction · 83

  A multigene peripheral-blood gene-expression biomarker accurately classifies which women from high-risk families develop familial breast cancer.

  peripheral pbmcs blood normal gene-expression lymphocyte gene

• Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits.

  PMID 33461502 · PMC7812657 · Genetics, selection, evolution : GSE · 2021 · 7 claims · 6 setups

  Has reproduction · 90

  Many significant cis-eQTL (geQTL, eeQTL, sQTL) were detected in sheep liver and muscle at FDR < 0.01.

  sheep bulk whole-genome cis-eqtl

• Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.

  PMID 33397809 · PMC7826347 · Proceedings of the National Academy of Sciences of the United States of America · 2021 · 8 claims · 7 setups

  Has reproduction · 48

  An AD-specific frameshift single-nucleotide insertion in exon 27 of PLCγ1 substitutes isoleucine 970 to asparagine in the 5xFAD AD mouse model.

  cortex 5xfad forebrain plcγ1 rna-seq rna-seq-based western

• Genome-wide identification of human functional DNA using a neutral indel model.

  PMID 16410828 · PMC1326222 · PLoS computational biology · 2006 · 8 claims · 8 setups

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  A neutral indel model predicting a geometric distribution of intergap segment (IGS) lengths fits human-mouse ancestral repeat (AR) alignment data excellently

  chromosome human-mouse genome individual whole-genome probabilistic comparative

• A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.

  PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 7 setups

  Has reproduction · 83

  The DSS phenotype-by-time interaction defines parsimonious temporal (dynamic) expression and splicing signatures of acute and chronic colitis distinct from time-specific differential expression.

  intestine colon dss distal bulk phenotypic h&e

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Evaluation of models to predict BRCA germline mutations.

  PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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  Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

  proband pedigrees randomly brca1 brcapro manchester

• QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

  PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)

  genomic same pseudo-normal artificially snp fish molecular

• Interpretation of genomic data: questions and answers.

  PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups

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  The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.

  genetically wound tumor breast gene expression comparative

• GeneSeer: a sage for gene names and genomic resources.

  PMID 16176584 · PMC1266031 · BMC genomics · 2005 · 7 claims · 4 setups

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  GeneSeer aggregates gene name synonyms from GenBank, FlyBase, ExPASy, HUGO, ENSEMBL, UCSC and Gene Ontology into a name-translation database that maps any familiar name to a reference (SOFAR) identifier.

  sofar clusters rnai gene blast sequence shrna

• Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

  PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes

  random trans-acting tpo fibronectin minigene selex cdna

• JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

  PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

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  A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

  blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite

• Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

  PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

  genomic pcr-amplified computational pcr restriction pcr-rflp

• Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle.

  PMID 17362520 · PMC1839098 · BMC genomics · 2007 · 8 claims · 8 setups

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  The bovine BPI-like locus spans 470 kbp and contains 14 contiguous genes (13 intact + 1 pseudogene); 9 are orthologous to human/mouse BPI-like genes and 4 (named BSP30A, BSP30B, BSP30C, BSP30D) arose through cattle-specific duplication of the PSP gene

  bovine panel agresearch intact random gene northern

• Genome-wide survey of allele-specific splicing in humans.

  PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups

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  A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)

  genome cdna hapmap computational est exon

• Adapting to a changing world: RAG genomics and evolution.

  PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups

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  RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.

  rag-1 patients zebrafish vertebrate comparative site-directed clinical

• AceView: a comprehensive cDNA-supported gene and transcripts annotation.

  PMID 16925834 · PMC1810549 · Genome biology · 2006 · 8 claims · 4 setups

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  At the mRNA level, AceView transcripts are the closest match to Gencode transcripts among all evaluated methods, including alternative splice variants

  genome encode caenorhabditis comparative n-to-n cds