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).
-
Has reproduction · 80
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.
PMID 33193602 · PMC7541957 · Frontiers in genetics · 2020 · 8 claims · 5 setups
GenomeChronicler is, to the authors' knowledge, the first pipeline that can be run offline or in the cloud to generate non-disease-limited personal genomics reports from whole genome or whole exome sequencing data.
-
Has reproduction · 66
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 6 claims · 7 setups
A PE2-mediated single-base (C>G) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder but not heart or brain, mirroring HDR-mediated 3-bp substitution.
-
Full-text index only
Advances in breast cancer: pathways to personalized medicine.
PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer
-
Full-text index only
Prostate cancer genomics: towards a new understanding.
PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups
Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk
-
Full-text index only
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups
SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours
-
Full-text index only
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.
-
Full-text index only
Design and analysis issues in genome-wide somatic mutation studies of cancer.
PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups
Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.
-
Full-text index only
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups
Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.
-
Full-text index only
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.
-
Full-text index only
Rats go genomic.
PMID 16522223 · PMC1431730 · Genome biology · 2006 · 7 claims · 8 setups
A systems biology approach combining genome-wide expression profiling with expression QTL (eQTL) mapping can identify candidate genes underlying complex-disease QTLs
-
Full-text index only
Molecular tumor profiling: translating genomic insights into clinical advances.
PMID 15287965 · PMC507868 · Genome biology · 2004 · 8 claims · 8 setups
Gene-expression profiling can distinguish BRCA1- and BRCA2-linked breast tumors from sporadic breast tumors with similar hormone-receptor status
-
Full-text index only
The genome of Brugia malayi - all worms are not created equal.
PMID 18952001 · PMC2668601 · Parasitology international · 2009 · 8 claims · 8 setups
Comparative genome analysis shows conserved long-range synteny but divergent local gene order between B. malayi and C. elegans, reflecting distinct evolutionary trajectories of parasitic and free-living lineages.
-
Full-text index only
Complex landscapes of somatic rearrangement in human breast cancer genomes.
PMID 20033038 · PMC3398135 · Nature · 2009 · 8 claims · 6 setups
There are more somatic rearrangements in some breast cancers than previously appreciated by cytogenetic methods.
-
Full-text index only
Have microarrays failed to deliver for developmental biology?
PMID 12225576 · PMC139405 · Genome biology · 2002 · 8 claims · 8 setups
Despite predictions that microarrays would transform biology, very few published developmental biology microarray studies have generated novel insights.
-
Full-text index only
Mice and more.
PMID 14519193 · PMC328447 · Genome biology · 2003 · 8 claims · 7 setups
A multispecies weighted conservation score, which accounts for each species' divergence rate, can identify conserved non-coding sequences (multispecies conserved sequences, MCSs) likely to be biologically significant
-
Full-text index only
Evolutionary origins of human apoptosis and genome-stability gene networks.
PMID 18832373 · PMC2577361 · Nucleic acids research · 2008 · 8 claims · 8 setups
The entanglement of DNA repair, chromosome stability and apoptosis gene networks appears with the caspase gene family and the antiapoptotic gene BCL2.
-
Full-text index only
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
-
Has reproduction · 87
Differentiating Drosophila female germ cells initiate Polycomb silencing by regulating PRC2-interacting proteins.
PMID 32773039 · PMC7438113 · eLife · 2020 · 7 claims · 3 setups
Drosophila female germline stem cells lack canonical Polycomb silencing and have a non-canonical H3K27me3 distribution resembling early embryos.
-
Has reproduction · 88
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups
A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).
-
Full-text index only
Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.