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 63

Assay: polymorphic ✕ Clear

The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.

PMID 16733551 · PMC1464829 · PLoS genetics · 2006 · 8 claims · 5 setups

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Highly polymorphic, multiallelic DNA markers spaced across the genome could be used to build a complete human genetic linkage map

families bacteria genome family genetic transposon
Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups

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NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.

mandenka worldwide hapmap nat2 full snp analysis
A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups

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Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.

individuals sequence resequencing snps targeted sequence genotype
Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

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Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

microdissected same genomic frozen microsatellite loss vhl
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

genomic family ethnically affected genotyping two-point sanger
Complete genome sequence and comparative analysis of the wild-type commensal Escherichia coli strain SE11 isolated from a healthy adult.

PMID 18931093 · PMC2608844 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2008 · 8 claims · 6 setups

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The SE11 genome comprises a 4.8 Mb chromosome encoding 4679 protein-coding genes and six plasmids encoding 323 protein-coding genes

coli se11 rapd whole-genome gene
A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.

PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups

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A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig

cetacea amel-y amel-x cetartiodactyla pcr sanger molecular
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

three-generation genomic crybb1 family genotyping direct restriction
A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups

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The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.

sporadic meningioma loss pcr-rflp histopathological
Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.

PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups

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Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)

falciparum falciparum-infected pcr-amplified non-identical static rosette rt-pcr
Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection.

PMID 16102740 · PMC7124242 · Clinica chimica acta; international journal of clinical chemistry · 2006 · 6 claims · 7 setups

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The Luminex xMAP system uses spectrally distinct dyed microspheres (up to 100 sets) read by dual lasers to enable simultaneous multiplexed analysis of up to 100 reactions in one vessel.

genomic apoe hla whole-genome direct oligonucleotide single
Molecular genomic approaches to infectious diseases in resource-limited settings.

PMID 19855820 · PMC2745561 · PLoS medicine · 2009 · 8 claims · 5 setups

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Researchers in most developing countries lack the technology, resources, and capacity to participate fully in genomics research.

clinical mycobacterium trypanosoma theileria pcr-based molecular whole-genome
Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.

PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups

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Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.

reference unigene ensembl normal tandem polymorphism gene
Comparative genomics of the neglected human malaria parasite Plasmodium vivax.

PMID 18843361 · PMC2651158 · Nature · 2008 · 8 claims · 8 setups

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P. vivax resembles other sequenced malaria parasites (P. falciparum, P. knowlesi, P. yoelii) in gene content and metabolic potential

vivax genome comparative microsatellite
Predicting phenotype and emerging strains among Chlamydia trachomatis infections.

PMID 19788805 · PMC2819883 · Emerging infectious diseases · 2009 · 8 claims · 7 setups

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A 7-locus MLST scheme selected from conserved housekeeping genes shared across 4 Chlamydiaceae species (7 genomes) can genotype diverse C. trachomatis reference and clinical isolates.

genome-sequenced trachomatis same concatenated whole-genome multilocus ompa
mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.

PMID 16381973 · PMC1347373 · Nucleic acids research · 2006 · 8 claims · 3 setups

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mtDB is a comprehensive, actively maintained database of published human mitochondrial genome sequences, providing a common resource for population genetics and medical research

mitochondrial aligned compilation sequence multi-locus
Accurate sequence variant genotyping in cattle using variation-aware genome graphs.

PMID 31092189 · PMC6521551 · Genetics, selection, evolution : GSE · 2019 · 8 claims · 7 setups

Has reproduction · 45

Graphtyper outperformed GATK and SAMtools in genotype concordance, non-reference sensitivity, and non-reference discrepancy compared to microarray genotypes

original sire-son whole-genome multi-sample graph-based
Strong population differentiation in lingcod (Ophiodon elongatus) is driven by a small portion of the genome.

PMID 33294007 · PMC7691466 · Evolutionary applications · 2020 · 7 claims · 8 setups

Has reproduction · 84

Lingcod comprise two distinct genetic clusters separated latitudinally at a break near Point Reyes off Northern California, with a high frequency of admixed individuals near the break.

ophiodon single lingcod subset radseq genome bayesian
Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.

PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups

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p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined

common ovarian restriction sscp direct

Experiments

The molecular landscape of ASPM mutations in primary microcephaly.

Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.

Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Complete genome sequence and comparative analysis of the wild-type commensal Escherichia coli strain SE11 isolated from a healthy adult.

A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.

Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection.

Molecular genomic approaches to infectious diseases in resource-limited settings.

Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.

Comparative genomics of the neglected human malaria parasite Plasmodium vivax.

Predicting phenotype and emerging strains among Chlamydia trachomatis infections.

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.

Accurate sequence variant genotyping in cattle using variation-aware genome graphs.

Strong population differentiation in lingcod (Ophiodon elongatus) is driven by a small portion of the genome.

Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.