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: e.g ✕ Assay: rflp ✕ Clear

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

genomic pcr proband restriction sscp automated
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups

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All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129

vcjd scjd scottish controls pcr-rflp full chi-squared
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
Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.

PMID 18439357 · PMC2600263 · Emerging infectious diseases · 2008 · 8 claims · 8 setups

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71% (91/129) of Chinese cryptococcosis clinical isolates (1985-2006) came from patients with no apparent risk factor, versus only 8.5% from AIDS patients, contrasting sharply with other countries

clinical neoformans randomly balb pcr ura5 igs1-5.8s
Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.

PMID 15984912 · PMC1166350 · PLoS biology · 2005 · 8 claims · 6 setups

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Most mtDNA lineages in Taiwanese aboriginal populations are distinct from those in China and the Taiwan Han population, consistent with descent from the island's initial late Pleistocene settlers

indigenous b4a-lineage southeast populations mtdna complete rflp
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

genomic clinical pcr-sscp restriction kaplan-meier
Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.

PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.

frozen muscle extracted pcr-amplified histochemical electron pcr-rflp
Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups

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A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)

genomic nat1 same pcr single-track single
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.

PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups

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Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)

lung wild-type matched paired two-round real-time airs-rflp

Experiments

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

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

Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.

Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.

Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.