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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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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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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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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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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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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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups
Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA
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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
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Genomic organization of zebrafish microRNAs.
PMID 18510755 · PMC2427041 · BMC genomics · 2008 · 8 claims · 6 setups
Using sequence conservation and prediction algorithms, 35 new zebrafish miRNAs were identified, bringing the total to 415.
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High-throughput crystallography for structural genomics.
PMID 19765976 · PMC2764548 · Current opinion in structural biology · 2009 · 8 claims · 8 setups
SG programs use genomic sequence data to select structurally novel protein targets, avoiding proteins with known structural homologues
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The UCSC genome browser database: update 2007.
PMID 17142222 · PMC1669757 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser Database provides sequence and annotation data for 13 vertebrate and 19 invertebrate species as of September 2006.
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Analysis of recent segmental duplications in the bovine genome.
PMID 19951423 · PMC2796684 · BMC genomics · 2009 · 8 claims · 6 setups
Recently duplicated sequence (≥1 kb, ≥90% identity) comprises 3.11% (94.4 Mb) of the bovine genome assembly (Btau_4.0)
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Recent segmental and gene duplications in the mouse genome.
PMID 12914656 · PMC193640 · Genome biology · 2003 · 8 claims · 8 setups
33.6 Mb (1.2%) of the February 2003 mouse genome assembly (2,695 Mb) is involved in recent segmental duplications
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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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The revolution of the biology of the genome.
PMID 15040884 · PMC7091781 · Cell research · 2004 · 8 claims · 6 setups
Polyploidization and gene duplication are the major mechanisms increasing eukaryotic genome size.
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The diploid genome sequence of an individual human.
PMID 17803354 · PMC1964779 · PLoS biology · 2007 · 7 claims · 6 setups
Generated an independently assembled diploid human genome sequence (HuRef) from both chromosome sets of a single individual using whole-genome shotgun Sanger sequencing
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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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Prospects of telomere-to-telomere assembly in barley: Analysis of sequence gaps in the MorexV3 reference genome.
PMID 35338551 · PMC9241371 · Plant biotechnology journal · 2022 · 7 claims · 8 setups
Almost all centromeric sequences and 45S ribosomal DNA repeat arrays are absent from the MorexV3 pseudomolecules
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Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.
PMID 14583777 · PMC2394414 · British journal of cancer · 2003 · 8 claims · 4 setups
p53 gene mutations are infrequent in oesophageal adenocarcinoma (9.6%)