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).

Publications 1.3k Datasets 392.5k Experiments 56

System / cell line: structure ✕ Assay: haplotype ✕ Clear

Software for tag single nucleotide polymorphism selection.

PMID 16004730 · PMC3525260 · Human genomics · 2005 · 8 claims · 3 setups

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Pairwise R2 methods tend to pick more tagging SNPs than strictly needed because they miss redundancy where two or more tag SNPs jointly predict an untagged SNP with no single direct surrogate.

tgfbr1 encode candidate tag haplotype
Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups

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Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm

unrelated same haplotype caucasian snp haplotype group
Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups

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Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility

blood-derived subjects matched genomic snp structured conditional
Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

genomic healthy irish case mutation direct taqman
Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.

PMID 19922672 · PMC2789746 · Malaria journal · 2009 · 8 claims · 8 setups

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Two distinctive COI haplotype groups were consistently detected, corresponding to the Caribbean and Pacific regions.

anopheles mtdna microsatellite population
Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups

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Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.

european-american yoruban japanese case sanger snp linkage
The dystrobrevin-binding protein 1 gene: features and networks.

PMID 18663367 · PMC2859304 · Molecular psychiatry · 2009 · 8 claims · 6 setups

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DTNBP1 gene structure, protein-coding sequence, and dysbindin domain are conserved across 13 vertebrate species, while noncoding sequence is diverse.

vertebrate dtnbp1 comparative cross-species molecular
A common haplotype within the PON1 promoter region is associated with sporadic ALS.

PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups

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Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS

genomic case-control sporadic serum snp allelic sliding-window
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

cmt2c affected spinal drg genetic sanger quantitative
Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

PMID 19907653 · PMC2771352 · PloS one · 2009 · 8 claims · 7 setups

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IL10 haplotype 1 (rs1800871, rs1800872, rs3024490, rs1554286) is associated with a pro-inflammatory ex vivo cytokine response (lower IL-10, higher TNF-alpha) relative to the population mean

population blood genomic hapmap snp survival allele
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups

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The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder

genomic haplotype direct full
ddRAD-seq reveals the genetic structure and detects signals of selection in Italian brown trout.

PMID 35100964 · PMC8805291 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 8 setups

Has reproduction · 87

Italian brown trout populations are genetically differentiated but show strong admixture introduced by stocking, especially with the Atlantic lineage.

salmo brown subset five ddrad-seq read population
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups

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PITX1 polymorphisms and haplotypes are significantly associated with autism

agre pitx1 parental family-based extended haplotype
Haplotype frequencies at the DRD2 locus in populations of the East European Plain.

PMID 19793394 · PMC2765450 · BMC genetics · 2009 · 8 claims · 4 setups

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The three-locus TaqI B-TaqI D-TaqI A haplotype at DRD2 constitutes a powerful genetic marker reflecting the most ancient dispersal of anatomically modern humans

genomic genotype rflp haplotype pcr-rflp hardy-weinberg pairwise
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups

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Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes

qbl pgf classical ceph bac comparative gene
GABRG1 and GABRA2 as independent predictors for alcoholism in two populations.

PMID 18818659 · PMC2656604 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 8 setups

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GABRG1 SNPs and haplotypes are significantly associated with alcohol use disorder (AUD) in both Finnish Caucasians and Plains American Indians

finnish plains population hapmap snp haplotype ancestry
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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Mutations in GLE1, an mRNA export mediator, cause LCCS1

lccs1 laahd finnish healthy genomic microsatellite carrier
Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.

PMID 19657584 · PMC3653168 · Journal of neural transmission (Vienna, Austria : 1996) · 2009 · 7 claims · 7 setups

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MAOB SNPs rs10521432 and rs6651806 are significantly associated with Negative Emotionality in healthy volunteers

healthy genotype maoa snp multidimensional profile
Genetic introgression from commercial European pigs to the indigenous Chinese Lijiang breed and associated changes in phenotypes.

PMID 38566006 · PMC10985947 · Genetics, selection, evolution : GSE · 2024 · 7 claims · 7 setups

Has reproduction · 64

Significant genetic introgression from commercial European pigs (EP) into the Lijiang pig (LJP) and other domestic Chinese pig breeds was detected.

unrelated chinese ljp individuals whole-genome d-statistic local
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

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The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation

bac genome metaphase overlapping manual repeat fluorescence

Experiments

Software for tag single nucleotide polymorphism selection.

Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.

Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

The dystrobrevin-binding protein 1 gene: features and networks.

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

ddRAD-seq reveals the genetic structure and detects signals of selection in Italian brown trout.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

Haplotype frequencies at the DRD2 locus in populations of the East European Plain.

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

GABRG1 and GABRA2 as independent predictors for alcoholism in two populations.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.

Genetic introgression from commercial European pigs to the indigenous Chinese Lijiang breed and associated changes in phenotypes.

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.