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).
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An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.
PMID 19925645 · PMC2791104 · BMC bioinformatics · 2009 · 7 claims · 3 setups
The loop design compares three patients pairwise across three hybridizations instead of each patient against a normal reference, using all arrays for informative test samples and avoiding ambiguity from benign CNVs in a reference sample.
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Molecular genetics and structural genomics of the human protein kinase C gene module.
PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups
The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.
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BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH).
PMID 16439806 · PMC1356528 · Nucleic acids research · 2006 · 8 claims · 7 setups
oaCGH, not BAC CGH arrays, is the platform that will prevail in the future
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups
RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene
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The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression.
PMID 16573809 · PMC1450280 · BMC genomics · 2006 · 7 claims · 8 setups
MDA-amplified DNA does not introduce major distortion of copy number imbalance assignments compared to unamplified DNA in control CGH experiments.
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
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
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Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.
PMID 15588320 · PMC544879 · BMC genomics · 2004 · 8 claims · 8 setups
The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation
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Using comparative genomics to reorder the human genome sequence into a virtual sheep genome.
PMID 17663790 · PMC2323240 · Genome biology · 2007 · 8 claims · 6 setups
A sheep BAC library (CHORI-243) with ~13.5-fold genome coverage was constructed and end-sequenced.
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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
Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.
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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
PMID 18226259 · PMC2268926 · BMC genomics · 2008 · 8 claims · 7 setups
GOLGA8E and WHDC1L1 are characterized for the first time as protein-coding transcripts from the PWS proximal breakpoint region.
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A statistical approach for array CGH data analysis.
PMID 15705208 · PMC549559 · BMC bioinformatics · 2005 · 8 claims · 4 setups
Existing model-selection criteria (AIC, BIC, and prior ad hoc penalties) are not well adapted to estimating the number of segments in array CGH data
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Genomic divergences among cattle, dog and human estimated from large-scale alignments of genomic sequences.
PMID 16759380 · PMC1525190 · BMC genomics · 2006 · 8 claims · 6 setups
Overall pairwise genomic divergences among cattle, dog and human are relatively constant (0.32–0.37 change/site)
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PMID 16625196 · PMC2610434 · Nature · 2006 · 8 claims · 7 setups
A finished sequence of human chromosome 17 (78,839,971 bases, ~2.8% of the euchromatic genome) was generated.
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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.
PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups
graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.
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Locus-specific and activity-independent gene repositioning during early tumorigenesis.
PMID 18195100 · PMC2213600 · The Journal of cell biology · 2008 · 7 claims · 6 setups
The genome undergoes global spatial reorganization during both normal and tumorigenic mammary epithelial differentiation, as shown by reduced nucleolar number.
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CGHPRO -- a comprehensive data analysis tool for array CGH.
PMID 15807904 · PMC1274268 · BMC bioinformatics · 2005 · 8 claims · 3 setups
CGHPRO is a user-friendly, versatile, stand-alone Java tool for normalization, visualization, breakpoint detection and comparative analysis of array-CGH data
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Computational comparison of two mouse draft genomes and the human golden path.
PMID 12537546 · PMC151282 · Genome biology · 2003 · 8 claims · 7 setups
The Celera and public mouse genome assemblies differ in about 10% of the mouse genome, with complementary strengths (Celera higher base-pair accuracy and overall coverage; public assembly higher quality in some finished BAC regions and freely accessible)
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Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier.
PMID 18654618 · PMC2442658 · PLoS genetics · 2008 · 8 claims · 5 setups
Loss of AGG interruptions in CGG repeat tracts predisposes FMR1 alleles to instability and faster progression toward premutation/disease state