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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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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MatchMiner: a tool for batch navigation among gene and gene product identifiers.
PMID 12702208 · PMC154578 · Genome biology · 2003 · 8 claims · 3 setups
MatchMiner's LookUp function automates batch translation of an input list of gene identifiers into a matching list of a different identifier type.
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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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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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Rapid creation of BAC-based human artificial chromosome vectors by transposition with synthetic alpha-satellite arrays.
PMID 15673719 · PMC548352 · Nucleic acids research · 2005 · 8 claims · 5 setups
Presence of CENP-B box elements is required for efficient de novo centromere formation in HAC vectors
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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
42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH
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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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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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DNA sequence and analysis of human chromosome 9.
PMID 15164053 · PMC2734081 · Nature · 2004 · 8 claims · 8 setups
The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs, representing >99.6% of the region.
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A sequence-based survey of the complex structural organization of tumor genomes.
PMID 18364049 · PMC2397511 · Genome biology · 2008 · 8 claims · 6 setups
End sequencing profiling (ESP) can identify all classes of genome rearrangements in tumor genomes by paired-end sequencing of BAC clones
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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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The DNA sequence and analysis of human chromosome 13.
PMID 15057823 · PMC2665288 · Nature · 2004 · 8 claims · 8 setups
95.5 Mb of finished sequence from chromosome 13 was completed, containing 633 genes and 296 pseudogenes.
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Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.
PMID 18257913 · PMC2374708 · Genome biology · 2008 · 8 claims · 7 setups
The macaque marker order on chromosome 17 represents the ancestral hominoid/mammalian organization
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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups
The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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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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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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Human and mouse oligonucleotide-based array CGH.
PMID 16361265 · PMC1316119 · Nucleic acids research · 2005 · 8 claims · 8 setups
Oligo array CGH detects single copy gains, multi-copy amplifications, and homozygous/heterozygous deletions as small as 100 kb
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Evolutionary toggling of the MAPT 17q21.31 inversion region.
PMID 19165922 · PMC2684794 · Nature genetics · 2008 · 8 claims · 6 setups
The H2 (inverted) orientation is the most likely ancestral great ape/human configuration at 17q21.31