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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Geographical genomics of human leukocyte gene expression variation in southern Morocco.
PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups
Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.
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Population history and natural selection shape patterns of genetic variation in 132 genes.
PMID 15361935 · PMC515367 · PLoS biology · 2004 · 7 claims · 5 setups
Developed a rigorous computational approach that corrects for multiple hypothesis testing and models population demographic history to test for natural selection
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A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.
PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups
Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.
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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups
Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP
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Nucleosome deposition and DNA methylation at coding region boundaries.
PMID 19723310 · PMC2768978 · Genome biology · 2009 · 8 claims · 8 setups
Nucleosomes and DNA methylation form distinct peaks just downstream of the start codon and just upstream of the stop codon, marking both ends of protein coding units genome-wide.
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Sequence variation in the human transcription factor gene POU5F1.
PMID 18254969 · PMC2275747 · BMC genetics · 2008 · 7 claims · 5 setups
POU5F1 is highly polymorphic, with a higher polymorphism density than most genes
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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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Comparative genomics of Drosophila and human core promoters.
PMID 16827941 · PMC1779564 · Genome biology · 2006 · 8 claims · 6 setups
Drosophila core promoters contain 298 highly significant (p≤1e-16) non-randomly positioned 8-mers within 100 bp of the TSS, grouped into 15 distinct DNA motifs
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
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.
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Optimizing Single-Cell Long-Read Sequencing for Enhanced Isoform Detection in Pancreatic Islets.
PMID 41563441 · PMC13007207 · Diabetes · 2026 · 8 claims · 7 setups
5′ single-cell library preparation protocols outperform 3′ protocols for transcript identification and read length
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Human epigenome project--up and running.
PMID 14691553 · PMC300691 · PLoS biology · 2003 · 7 claims · 4 setups
Epigenetic modifications (e.g., DNA methylation) rather than DNA sequence differences explain phenotypic differences between genetically identical individuals, such as monozygotic twins or inbred mice.
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.
PMID 18588689 · PMC2474586 · BMC medical genetics · 2008 · 8 claims · 6 setups
A region spanning the gene RAI and the 5' portion of XPD is associated with postmenopausal breast cancer
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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.
PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups
β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas
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Characterization of the human DYRK1A promoter and its regulation by the transcription factor E2F1.
PMID 18366763 · PMC2292204 · BMC molecular biology · 2008 · 8 claims · 8 setups
Transcription start sites of human DYRK1A are distributed over an 800 bp region within an unmethylated CpG island
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CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas.
PMID 18577749 · PMC2483574 · Journal of the National Cancer Institute · 2008 · 7 claims · 8 setups
CHD5 promoter is highly methylated in neuroblastoma cell lines with 1p deletion and absent CHD5 expression (NLF, IMR5)
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Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.
PMID 17645789 · PMC1947951 · BMC medical genetics · 2007 · 7 claims · 7 setups
Resequencing of PNMT found no common susceptibility variants that distinguish hypertensive from normotensive individuals
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An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.
PMID 18302794 · PMC2292209 · BMC genetics · 2008 · 7 claims · 5 setups
Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies