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).

• Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

  PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups

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  A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.

  postmortem cdna western quantitative

• Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.

  PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups

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  Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining

  recombined southern rt-pcr colony

• Integrative annotation of 21,037 human genes validated by full-length cDNA clones.

  PMID 15103394 · PMC393292 · PLoS biology · 2004 · 8 claims · 5 setups

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  41,118 full-length human cDNAs from six high-throughput sequencing projects were exhaustively integratively characterized

  genome transcriptome gene genes full-length genome cdna

• Eighth major clade for hepatitis delta virus.

  PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups

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  Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.

  serum-derived complete same shd rt-pcr sequence phylogenetic

• Mitochondrial diversity within modern human populations.

  PMID 17439969 · PMC1888801 · Nucleic acids research · 2007 · 8 claims · 5 setups

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  Modern humans show extremely low divergence from the mitochondrial consensus sequence, differing on average by only 21.6 nucleotide sites

  full-length mitochondrial mtdna additional sequence site-by-site regional

• DDBJ in collaboration with mass-sequencing teams on annotation.

  PMID 15608189 · PMC539974 · Nucleic acids research · 2005 · 7 claims · 5 setups

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  DDBJ collected and released 1,066,084 entries (718,072,425 bases) in the past year, including the complete chimpanzee chromosome 22 sequence and silkworm whole-genome shotgun data

  chimpanzee silkworm mus homo whole-chromosome whole-genome cage

• Enhanced protein isoform characterization through long-read proteogenomics.

  PMID 35241129 · PMC8892804 · Genome biology · 2022 · 6 claims · 4 setups

  Has reproduction · 79

  A long-read proteogenomics pipeline integrating PacBio long-read RNA-seq with MS-based proteomics enhances isoform-resolved protein characterization

  jurkat jurkat-derived long-read transcript orf

• Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

  PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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  TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

  pakistani affected retina tissues linkage sanger race

• Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms.

  PMID 16569258 · PMC1557760 · Genome biology · 2006 · 8 claims · 7 setups

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  An exon-gene-union (EGU) algorithm followed by an open-reading-frame-selection algorithm can synthesize ab initio (GENSCAN, GeneMark, SNAP) and comparative (Ensembl/Genewise) predictions into a single, more complete CDS set

  anopheles gambiae reanocds05 initio full-length rt-pcr

• RNASEQR--a streamlined and accurate RNA-seq sequence analysis program.

  PMID 22199257 · PMC3315322 · Nucleic acids research · 2012 · 8 claims · 7 setups

  Has reproduction · 86

  RNASEQR is a new RNA-seq mapper/aligner that combines a BWT-based (Bowtie) transcriptomic/genomic alignment with hash-based BLAT local alignment in three sequential steps: transcriptome mapping, novel exon detection, and anchor-and-align novel splice junction identification.

  ccds glioblastoma experimental simulated simulated bulk quality

• Genome-wide diversity and selective pressure in the human rhinovirus.

  PMID 17477878 · PMC1892812 · Virology journal · 2007 · 7 claims · 6 setups

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  Whole genome and subgenomic phylogenies of HRV are essentially identical at every locus, indicating consistent phylogenetic patterns across the genome.

  diverse hrv fully hrva genome phylogenetic pairwise

• APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

  PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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  Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

  blood pcr pcr-amplified cdna chemical sequencing single-strand

• AceView: a comprehensive cDNA-supported gene and transcripts annotation.

  PMID 16925834 · PMC1810549 · Genome biology · 2006 · 8 claims · 4 setups

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  At the mRNA level, AceView transcripts are the closest match to Gencode transcripts among all evaluated methods, including alternative splice variants

  genome encode caenorhabditis comparative n-to-n cds

• Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.

  PMID 18451061 · PMC2885628 · Microbiology (Reading, England) · 2008 · 8 claims · 6 setups

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  N. lactamica por is less diverse than meningococcal porB2 and porB3

  lactamica unique pcr distance-based population

• Ensembl 2007.

  PMID 17148474 · PMC1761443 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  Ensembl added 18 new chordate genomes this year, increasing total genomes available from 15 to 33, the largest yearly increase to date.

  low-coverage cow chicken genome genome standard customized

• Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).

  PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups

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  The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.

  c3h genomic bac multiple-tissue genetic yac direct

• 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

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  37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates

  serum vero chikv additional rt-pcr virus whole-genome

• Clinical and molecular characterization of a re-established line of sheep exhibiting hemophilia A.

  PMID 19943872 · PMC2826196 · Journal of thrombosis and haemostasis : JTH · 2010 · 7 claims · 7 setups

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  A line of hemophilia A (HA) sheep, extinct since the 1980s, was successfully re-established using cryopreserved semen and assisted reproductive technologies (MOET, IVF, ICSI)

  sheep normal hemophilic assisted coagulation fviii