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).
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups
Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families
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Genome analysis of multi- and extensively-drug-resistant tuberculosis from KwaZulu-Natal, South Africa.
PMID 19890396 · PMC2767505 · PloS one · 2009 · 8 claims · 4 setups
Rifampicin resistance (rpoB) and pyrazinamide resistance (pncA) mutations occur at different nucleotide positions in the MDR and XDR strains, showing they were acquired independently and that the XDR strain did not evolve directly from this MDR strain.
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups
Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.
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Characterizing natural variation using next-generation sequencing technologies.
PMID 19801172 · PMC3994700 · Trends in genetics : TIG · 2009 · 8 claims · 8 setups
Next-generation sequencing enables complete, genome-wide surveys of genetic variation at unprecedented resolution, overcoming limitations of genotyping panels and microarrays.
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A critical reassessment of the role of mitochondria in tumorigenesis.
PMID 16187796 · PMC1240051 · PLoS medicine · 2005 · 8 claims · 8 setups
A significant number of published medical mtDNA cancer studies are based on obviously flawed sequencing results.
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A comprehensive catalogue of somatic mutations from a human cancer genome.
PMID 20016485 · PMC3145108 · Nature · 2010 · 8 claims · 7 setups
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
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups
ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.
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Has reproduction · 80
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
PMID 36928603 · PMC10101853 · Nature genetics · 2023 · 8 claims · 6 setups
The WHO histopathological classification of MPM accounts for only up to ~10% of interpatient molecular differences
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Has reproduction · 30
Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.
PMID 24221193 · PMC3912411 · Genome research · 2014 · 8 claims · 8 setups
Treatment-naïve epithelial ovarian cancers show extensive intra-tumor heterogeneity of genomic rearrangements, with the most substantial differences occurring between omentum/peritoneum metastases and ovarian tumor sites.
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Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.
PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups
37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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Has reproduction · 76
A Deeper Insight into Evolutionary Patterns and Phylogenetic History of ASFV Epidemics in Sardinia (Italy) through Extensive Genomic Sequencing.
PMID 34696424 · PMC8539718 · Viruses · 2021 · 7 claims · 8 setups
58 new whole genomes of Sardinian ASFV isolates were sequenced, the largest ASFV whole-genome sequencing effort to date
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Has reproduction · 58
Genomic Correlates of Virulence Attenuation in the Deadly Amphibian Chytrid Fungus, Batrachochytrium dendrobatidis.
PMID 26333840 · PMC4632049 · G3 (Bethesda, Md.) · 2015 · 8 claims · 8 setups
Virulence attenuation in the longer-passaged Bd isolate (JEL427-P39) is associated with loss of chromosome copy number relative to the shorter-passaged, more virulent isolate (JEL427-P9)
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Has reproduction · 78
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.
PMID 37106072 · PMC10181940 · Nature genetics · 2023 · 8 claims · 8 setups
CODEC concatenates both strands of an original DNA duplex into a single NGS read pair via an adapter quadruplex and strand-displacing extension, enabling single-duplex resolution
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Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.
PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups
The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
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.
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Biodefense versus bioterrorism.
PMID 18771576 · PMC2575524 · Genome biology · 2008 · 5 claims · 4 setups
Whole-genome sequencing and comparative genomics of the attack strain were used to trace the anthrax letters to a specific laboratory flask
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Rise of the machines.
PMID 18670625 · PMC2467494 · PLoS genetics · 2008 · 8 claims · 4 setups
New short-read sequencing platforms (Illumina Genome Analyzer, 454 FLX, ABI SOLiD) enable rapid, scalable whole-genome resequencing that was previously restricted to dedicated sequencing centers using Sanger methods.