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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The promise and reality of personal genomics.
PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups
Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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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
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
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MuPlex: multi-objective multiplex PCR assay design.
PMID 15980531 · PMC1160138 · Nucleic acids research · 2005 · 8 claims · 3 setups
MuPlex is a web-enabled system that designs multiplex PCR assays by selecting primer pairs for SNPs and partitioning them into multiplex-compatible tube sets.
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An empirical study of choosing efficient discriminative seeds for oligonucleotide design.
PMID 19958494 · PMC2788383 · BMC genomics · 2009 · 8 claims · 3 setups
The spaced seed is the most efficient discriminative seed for oligonucleotide design among the five algorithms tested.
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Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.
PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups
SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms
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Protein co-evolution, co-adaptation and interactions.
PMID 18818697 · PMC2556093 · The EMBO journal · 2008 · 8 claims · 6 setups
The mirrortree method predicts protein-protein interactions by detecting pairs of protein families with similar phylogenetic trees (quantified as Pearson correlation of sequence similarity matrices).
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Bcipep: a database of B-cell epitopes.
PMID 15921533 · PMC1173103 · BMC genomics · 2005 · 8 claims · 2 setups
Bcipep is a comprehensive database of experimentally determined linear B-cell epitopes compiled from literature and other public databases
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The most frequent short sequences in non-coding DNA.
PMID 19966278 · PMC2831315 · Nucleic acids research · 2010 · 8 claims · 2 setups
Short frequent sequences (9-14 bases) in non-coding DNA may play a role in maintaining chromosome structure and function
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Genomic approaches to the genetics of alcoholism.
PMID 12875046 · PMC6683845 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2002 · 8 claims · 4 setups
Alcoholism is a complex disease that develops from a combination of numerous genetic and environmental factors, unlike single-gene disorders such as cystic fibrosis or Huntington's disease.
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Meeting highlights: beyond the genome 2000: the 18th International Congress of Biochemistry and Molecular Biology.
PMID 11119309 · PMC2448388 · Yeast (Chichester, England) · 2000 · 8 claims · 8 setups
Celera sequenced a human genome to ~45-fold coverage from one donor and used high-quality sequence stretches to define ~6 million SNPs
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International sequencing consortium.
PMID 15174459 · PMC1315987 · Environmental health perspectives · 2004 · 8 claims · 6 setups
The p19 viral silencing-suppressor protein selectively recognizes short (21-22 nt) silencing siRNAs by measuring duplex length, using tryptophan residues (Trp39, Trp42) as molecular calipers that stack against the siRNA end base pairs.
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The changing face of genomics.
PMID 15128443 · PMC416465 · Genome biology · 2004 · 8 claims · 8 setups
Genome-wide ChIP-chip mapping of ~200 yeast transcriptional regulators across environmental conditions reveals general principles of promoter architecture and regulatory response types
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The UCSC Genome Browser Database: update 2009.
PMID 18996895 · PMC2686463 · Nucleic acids research · 2009 · 8 claims · 6 setups
The UCSC Genome Browser Database (GBD) is a publicly available, integrated collection of genome assembly sequences and annotations across many organisms, including extensive comparative-genomic resources.
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GenBank.
PMID 18940867 · PMC2686462 · Nucleic acids research · 2009 · 8 claims · 4 setups
GenBank is a comprehensive public database of nucleotide sequences with bibliographic and biological annotation, growing exponentially with a current doubling time of ~30 months.
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mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.
PMID 16381973 · PMC1347373 · Nucleic acids research · 2006 · 8 claims · 3 setups
mtDB is a comprehensive, actively maintained database of published human mitochondrial genome sequences, providing a common resource for population genetics and medical research
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Web-based resources for comparative genomics.
PMID 16197736 · PMC3525128 · Human genomics · 2005 · 8 claims · 8 setups
Comparative genomics is an indispensable tool for identifying functional genome elements and exploring evolutionary genome dynamics
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Has reproduction · 70
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups
Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.
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Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders