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 205

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

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
Variants in the vitamin D receptor gene and asthma.

PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups

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VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region

individuals children parents transmission bronchial pulmonary
Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

PMID 15743496 · PMC1064127 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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A common BRCA1 haplotype (haplotype 2, C A G G) is associated with a modest increase in sporadic breast cancer risk

individuals nested same nurses whole-gene snp statistical
Analysis of concordance of different haplotype block partitioning algorithms.

PMID 16356172 · PMC1343594 · BMC bioinformatics · 2005 · 7 claims · 7 setups

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Each block partitioning algorithm infers blocks differing in number, size, and coverage under different SNP density and allele frequency conditions.

simulated subsamples coalescent diversity-based ld-based
Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups

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NAT2 variants are homogeneously distributed across native populations of the American continent

chromosomes same inferred american pcr statistical haplotype
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

french index unaffected mutation-carrier mutation microsatellite haplotype
Bayesian survival analysis in genetic association studies.

PMID 18617538 · PMC2530885 · Bioinformatics (Oxford, England) · 2008 · 7 claims · 5 setups

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A novel Bayesian method (BETA-Surv) extends prior case-control haplotype-clustering work to censored survival outcomes by clustering haplotypes via gene tree/perfect phylogeny topology and relative mutation age.

simulated same sanad bayesian univariate partial
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

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A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

genomic tulp1 y79 haplotype direct mismatch-primer
Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.

PMID 18193213 · PMC2206249 · Immunogenetics · 2008 · 8 claims · 6 setups

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Comparison of eight HLA-homozygous MHC haplotype sequences identified >44,000 variations (substitutions and indels), submitted to dbSNP

hla-homozygous same mhc indel clone-by-clone gene hla
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
The future is genome-wide.

PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups

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Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level

schizophrenia myocardial individuals infectious genetic candidate gene
Comparative population genomics reveals convergent and divergent selection in the apricot-peach-plum-mei complex.

PMID 38883333 · PMC11179850 · Horticulture research · 2024 · 7 claims · 7 setups

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A haplotype-resolved telomere-to-telomere (T2T) genome of plum (P. salicina cv. 'Fengtangli') was assembled into two gap-free haplotypes of 251.25 and 251.29 Mb.

plum four appm genes pacbio hi-c k-mer
Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.

PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups

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Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb

eye genomic tnnt1 cdna genomic snp
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
Genomic views of distant-acting enhancers.

PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups

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Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.

genome patients embryos ret gwas targeted transgenic
Analyses and comparison of accuracy of different genotype imputation methods.

PMID 18958166 · PMC2569208 · PloS one · 2008 · 8 claims · 3 setups

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Stronger LD produces higher imputation accuracy rates for all five methods

simulated real linux genotype computational
Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups

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Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.

taiwanese bpd bess arms multiplex
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
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups

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No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution

blood-derived genomic chromosomes rho whole-locus pcr haplotype
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

melanoma-prone haplotype microsatellite maximum

Experiments

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Variants in the vitamin D receptor gene and asthma.

Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

Analysis of concordance of different haplotype block partitioning algorithms.

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Bayesian survival analysis in genetic association studies.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

The future is genome-wide.

Comparative population genomics reveals convergent and divergent selection in the apricot-peach-plum-mei complex.

Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.

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

Genomic views of distant-acting enhancers.

Analyses and comparison of accuracy of different genotype imputation methods.

Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

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

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.