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

• A statistical change point model approach for the detection of DNA copy number variations in array CGH data.

  PMID 19875853 · PMC4154476 · IEEE/ACM transactions on computational biology and bioinformatics · 2009 · 7 claims · 4 setups

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  A novel mean and variance change point model (MVCM) is proposed to detect CNVs/breakpoints in aCGH data.

  simulated fibroblast breast simulation array

• Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

  PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups

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  42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH

  genomic metaphase computational array-cgh fish real-time

• Integration of cytogenetic landmarks into the draft sequence of the human genome.

  PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups

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  7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource

  large-insert bac ml-2 dgap012 fluorescence sts array

• Capturing genomic signatures of DNA sequence variation using a standard anonymous microarray platform.

  PMID 17000641 · PMC1636412 · Nucleic acids research · 2006 · 8 claims · 6 setups

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  An anonymous SHyP oligonucleotide microarray can capture genomic signatures of DNA sequence variation from any organism, including a previously unsequenced species

  genomic gonystylus subset restriction-digested custom self-self blast

• 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

• Genomics, molecular imaging, bioinformatics, and bio-nano-info integration are synergistic components of translational medicine and personalized healthcare research.

  PMID 18831773 · PMC3226104 · BMC genomics · 2008 · 8 claims · 8 setups

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  Genomics, molecular imaging, bioinformatics, and bio-nano-info integration are synergistic components of translational medicine and personalized healthcare

  mcf7 arabidopsis specified different chip-seq microarray array-based

• Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.

  PMID 18410676 · PMC2375447 · BMC genomics · 2008 · 8 claims · 7 setups

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  Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.

  chicken turkey broiler chromosome single fish

• Pathogenesis of vestibular schwannoma in ring chromosome 22.

  PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

  peripheral schwann skin-biopsy vestibular karyotyping fish array

• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.

  PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups

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  BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.

  reads yoruban cytogenetically predicted simulated paired-end whole-genome

• Variation resources at UC Santa Cruz.

  PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups

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  The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.

  chimpanzee affymetrix hapmap perlegen snp fixed linkage