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).

• Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.

  PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups

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  CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.

  genome-wide genome cohorts array-based snp bac

• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

  PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups

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  IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria

  wtccc replication population cases genome-wide taqman snp

• Challenges and standards in integrating surveys of structural variation.

  PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups

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  There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.

  genomic hapmap reference independent comparative snp fosmid

• Paired-end mapping reveals extensive structural variation in the human genome.

  PMID 17901297 · PMC2674581 · Science (New York, N.Y.) · 2007 · 8 claims · 8 setups

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  Paired-end mapping (PEM) combining 3-kb fragment paired-end capture, massive 454 sequencing, and computational mapping detects SVs ~3 kb or larger with an average breakpoint resolution of 644 bp

  genomic na15510 stretched reference paired-end pcr array

• Assessment of genotyping array performance for genome-wide association studies and imputation in African cattle.

  PMID 36057548 · PMC9441065 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 6 setups

  Has reproduction · 90

  Commercially available bovine arrays are ineffective at capturing variants segregating among African indicine animals, with only 6% of high-LD (r2>0.8) variants captured by the best arrays versus 17% in African taurine and 25% in European taurine.

  global ndama target illumina whole-genome array genotype

• snpQT: flexible, reproducible, and comprehensive quality control and imputation of genomic data.

  PMID 34900230 · PMC8637247 · F1000Research · 2021 · 8 claims · 4 setups

  Has reproduction · 67

  snpQT is a scalable, stand-alone software pipeline using nextflow and BioContainers for comprehensive, reproducible, interactive QC of human genomic data.

  synthetic amyotrophic user snp-array gwas population

• Decreased expression of the Id3 gene at 1p36.1 in ovarian adenocarcinomas.

  PMID 11161400 · PMC2363740 · British journal of cancer · 2001 · 7 claims · 7 setups

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  Id3 mRNA and protein expression are decreased in ovarian cancer cell lines compared to immortalized HOSE cells

  hose ovarian cdna semi-quantitative northern

• Identifying alternative hyper-splicing signatures in MG-thymoma by exon arrays.

  PMID 18545673 · PMC2409220 · PloS one · 2008 · 8 claims · 6 setups

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  An integrative ad-hoc functional GO analysis combining threshold-based (Fisher exact/hypergeometric) and threshold-free (Kolmogorov-Smirnov) statistics, plus term-to-parent comparisons, detects disease-relevant splicing events from exon array data.

  mg-thymoma colon exon fluorescent reverse

• A genome-wide screen for copy number alterations in Aicardi syndrome.

  PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.

  genomic subject array quantitative fluorescence

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

  PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups

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  Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome

  nci-h2171 nci-h1770 massively genomic rt-pcr

• 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

• Application of OMICS technologies in occupational and environmental health research; current status and projections.

  PMID 19933307 · PMC2910417 · Occupational and environmental medicine · 2010 · 8 claims · 6 setups

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  Five OMICS technologies are well established: genotyping, transcriptomics, epigenomics, proteomics, and metabolomics

  population genomic blood genome array-based comparative gene

• Emerging strategies and applications of pharmacogenomics.

  PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups

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  Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.

  subjects ethnically patients genome-wide gene case-control

• Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons.

  PMID 15018647 · PMC365025 · BMC genomics · 2004 · 8 claims · 8 setups

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  Combined SSH subtractive cloning and array CGH is an efficient strategy to identify overexpressed genes located within DNA amplicons.

  imr-32 subtracted mycn-amplified suppression differential array

• Performance of mitochondrial DNA mutations detecting early stage cancer.

  PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

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  The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

  matched blood mtdna low-quantity mitochondrial capillary str

• Managing incidental findings in human subjects research: analysis and recommendations.

  PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

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  Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.

  affected large research consent linkage genomic structural

• Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site.

  PMID 19906316 · PMC2784480 · BMC genomics · 2009 · 8 claims · 7 setups

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  Intronic single-block ESTs with poly(A/T) tails reveal previously unidentified novel transcript variants missed by existing databases.

  genome poly est cdna est blast cdna

• Recurring mutations found by sequencing an acute myeloid leukemia genome.

  PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.

  aml-m1 tumor bone additional whole-genome snp gene-expression

• Recombination events restored the functional horned haplotypes in the offspring of polled parents.

  PMID 41174470 · PMC12579413 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 7 setups

  Has reproduction · 98

  In the Holstein-Friesian (HF) trio, the horned offspring arose from non-allelic homologous recombination in the gametes of the P_F/P_F sire.

  trio fleckvieh whole-genome snp pcr-based