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 9

System / cell line: genomic ✕ Assay: shape ✕ Clear

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups

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DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing

genomic muscle blood direct dhplc multiplexed
Detecting transcriptionally active regions using genomic tiling arrays.

PMID 16859498 · PMC1779562 · Genome biology · 2006 · 8 claims · 4 setups

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A non-parametric method (TranscriptionDetector) integrates single-channel p-values from multiple replicate arrays into a multi-channel p-value (MCPV) to identify transcribed probed loci without assumptions about intensity distributions.

anopheles chromosomes simulated genomic high-density sequence-based
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

genomic taiwanese dhplc pcr sanger
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

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A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

genomic wfs1 ceph affected pcr sanger population
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

genomic pcr-amplified reep1 pcr dhplc direct
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

genomic unrelated best1 best1-4 direct chromosome pathogenicity
Detecting natural selection by empirical comparison to random regions of the genome.

PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups

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Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection

ceu genomic simulated long-read snp population
MBGD update 2010: toward a comprehensive resource for exploring microbial genome diversity.

PMID 19906735 · PMC2808943 · Nucleic acids research · 2010 · 8 claims · 6 setups

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MBGD allows users to create ortholog groups using a specified subgroup of organisms, distinguishing it from other comparative genomics resources

complete user-submitted ortholog mbgd hierarchical automated phylogenetic
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.

PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups

Has reproduction

Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.

horizon six cho-k1 cho genome rna-seq targeted

Experiments

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

Detecting transcriptionally active regions using genomic tiling arrays.

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Detecting natural selection by empirical comparison to random regions of the genome.

MBGD update 2010: toward a comprehensive resource for exploring microbial genome diversity.

Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.