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 51

System / cell line: multiplex ✕ Assay: amplification ✕ Clear

Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups

Full-text index only

Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.

genomic multiplex circularized circular multiplex probe-guided exonuclease
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups

Full-text index only

Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families

genomic same pcr multiplex pcr snapshot
Minisequencing mitochondrial DNA pathogenic mutations.

PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups

Full-text index only

A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.

blood-derived same genomic pcr minisequencing automatic multiplex
Silhouette scores for assessment of SNP genotype clusters.

PMID 15760469 · PMC555759 · BMC genomics · 2005 · 7 claims · 5 setups

Full-text index only

Silhouette scores provide a relevant, objective numeric measure of SNP genotype cluster quality, condensing tightness and separation into a single value from -1.0 to 1.0.

genomic blood extended hybridized single genomic multiplex
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

Full-text index only

Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

genomic unrelated additional patients fluorescent multiplex sequencing
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups

Full-text index only

BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers

french-canadian families brca1-positive same targeted full-length multiplex
Diversity of the parB and repA genes of the Burkholderia cepacia complex and their utility for rapid identification of Burkholderia cenocepacia.

PMID 18328098 · PMC2324101 · BMC microbiology · 2008 · 8 claims · 7 setups

Full-text index only

repA sequences show distinct clustering of B. cenocepacia relative to other Bcc species, enabling design of a species-specific multiplex PCR

burkholderia six bcc panel pcr phylogenetic multilocus
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

Full-text index only

BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

genomic pedigrees first-degree study pcr pedigree-based age
MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups

Full-text index only

MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis

pooled genomic aneuploid dog mlga
Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

PMID 18501021 · PMC2413256 · BMC cancer · 2008 · 8 claims · 3 setups

Full-text index only

A large genomic deletion spanning exons 1A-13 of BRCA1 (>43 kb, including the promoter) was identified in one Northern Finnish family with a history of ovarian cancer.

germline mlpa
SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

PMID 15659576 · PMC548375 · Nucleic acids research · 2005 · 8 claims · 5 setups

Full-text index only

A microarray-based method allows multiplex SNP genotyping in total human genomic DNA without target amplification or complexity reduction

unamplified genomic fragmented factor multiplex sequencing poly
Additional EFNB1 mutations in craniofrontonasal syndrome.

PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

Full-text index only

Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

lymphoblastoid cfns patients additional pcr multiplex molecular
Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.

PMID 19835597 · PMC2770485 · Molecular cancer · 2009 · 8 claims · 8 setups

Full-text index only

MLL-mutant (MLL mu) AML cell lines show significantly lower TSG promoter methylation than MLL wild-type (MLL wt) AML cell lines

acute mll lines bone ms-mlpa hhai methylation-specific
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups

Full-text index only

137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel

nci-60 pcr multiplex snp
Association of Escherichia coli O157:H7 tir polymorphisms with human infection.

PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups

Full-text index only

tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source

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

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

Full-text index only

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

genomic pcr-amplified reep1 pcr dhplc direct
Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups

Full-text index only

The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters

genomic proband's pcr rt-pcr multiplex
Large genomic rearrangements in the CFTR gene contribute to CBAVD.

PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

Full-text index only

Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

genomic pcr cftr semi-quantitative junction direct
Association of GSK3B with Alzheimer disease and frontotemporal dementia.

PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

Full-text index only

The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization
Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.

PMID 18842150 · PMC2577186 · BMC microbiology · 2008 · 7 claims · 8 setups

Full-text index only

MDA-amplified DNA from minute gastric biopsy specimens enables concurrent PCR-based genotyping of bacterial (H. pylori) and human host genes from a single DNA source

mda-amplified pylori-positive multiplex pyrosequencing pcr

Experiments

Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Minisequencing mitochondrial DNA pathogenic mutations.

Silhouette scores for assessment of SNP genotype clusters.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

Diversity of the parB and repA genes of the Burkholderia cepacia complex and their utility for rapid identification of Burkholderia cenocepacia.

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

Additional EFNB1 mutations in craniofrontonasal syndrome.

Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Association of Escherichia coli O157:H7 tir polymorphisms with human infection.

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

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.