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 10

System / cell line: mutations ✕ Assay: capillary ✕ Clear

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

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

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

genomic unrelated additional patients fluorescent multiplex sequencing
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

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Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

genomic somali sri ethnically dhplc snp sanger
Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

formalin-fixed corresponding sporadic pcr clinical
Performance of mitochondrial DNA mutations detecting early stage cancer.

PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

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The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

matched blood mtdna low-quantity mitochondrial capillary str
Mutation rate at commonly used forensic STR loci: paternity testing experience.

PMID 15665391 · PMC3839336 · Disease markers · 2004 · 8 claims · 2 setups

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Microsatellite (STR) loci mutate at a higher rate than bulk genomic DNA, causing interpretation problems in paternity testing.

parent edta str extraction
Genomic variability within an organism exposes its cell lineage tree.

PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups

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Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.

robinia arabidopsis randomly genotyping multiplex computer
A comprehensive catalogue of somatic mutations from a human cancer genome.

PMID 20016485 · PMC3145108 · Nature · 2010 · 8 claims · 7 setups

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Whole-genome sequencing of COLO-829 melanoma cells and matched COLO-829BL normal cells produced the first comprehensive catalogue of somatic mutations from an individual cancer genome

colo-829 additional whole-genome conventional pcr
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

PMID 19716302 · PMC2748900 · Current biology : CB · 2009 · 7 claims · 4 setups

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Direct sequencing of a 13-generation pedigree yields a Y-chromosome mutation rate of 3.0 × 10^-8 mutations/nucleotide/generation

flow-sorted cell-line family lymphoblastoid y-chromosome capillary y-str
Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.

PMID 18392055 · PMC2391109 · British journal of cancer · 2008 · 7 claims · 8 setups

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AKT1 E17K mutation occurs in breast cancers at a low frequency (4/93, 4.3%)

breast colorectal gastric hepatocellular pcr-sscp capillary
Differences in the histological findings, phenotypic marker expressions and genetic alterations between adenocarcinoma of the gastric cardia and distal stomach.

PMID 17262083 · PMC2360051 · British journal of cancer · 2007 · 8 claims · 6 setups

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C-Ca is associated with a significantly higher incidence of differentiated-type tumours and lymphatic vessel invasion (LVI) compared with D-Ca

resected c-ca microdissected formalin-fixed histopathological immunohistochemistry pcr-single-strand

Experiments

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

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Performance of mitochondrial DNA mutations detecting early stage cancer.

Mutation rate at commonly used forensic STR loci: paternity testing experience.

Genomic variability within an organism exposes its cell lineage tree.

A comprehensive catalogue of somatic mutations from a human cancer genome.

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.

Differences in the histological findings, phenotypic marker expressions and genetic alterations between adenocarcinoma of the gastric cardia and distal stomach.