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).

• GENCODE: producing a reference annotation for ENCODE.

  PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups

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  GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions

  tissues encode rt-pcr comparative automated

• In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

  PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon

  hek293 genome lymphocytes minigene artificial genome-wide

• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

  PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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  Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

  genomic available leukocytes affected linkage pcr single

• Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human.

  PMID 17452356 · PMC1904267 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  PASE (Prediction of Alternative Signaling Exons) is a computational algorithm combining Markov splice-site models, a Bayesian classifier, species conservation, and Scansite motif scoring to identify novel alternative cassette exons involved in cell signaling.

  elegans pooled pcr known semi-nested cloning initio

• The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

  PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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  Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

  genomic hair-root reference patients pcr screening multi-tissue

• Prediction and assessment of splicing alterations: implications for clinical testing.

  PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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  Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

  brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene

• High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.

  PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)

  genomic mitochondrial slc26a5 pcr sequence splice

• Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

  PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

  genomic pcr-amplified reep1 pcr dhplc direct

• Additional EFNB1 mutations in craniofrontonasal syndrome.

  PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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  Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

  lymphoblastoid cfns patients additional pcr multiplex molecular

• Genetic and biochemical studies in Argentinean patients with variegate porphyria.

  PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

  peripheral blood relative urine pcr rt-pcr enzyme

• Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

  PMID 18552984 · PMC2426732 · Molecular vision · 2008 · 8 claims · 4 setups

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  Coding/flanking regions of RHO, PRPF31, and IMPDH1, plus exons 4F/4G/4H of RP1, were PCR-amplified and directly sequenced in 48 isolated and 53 adRP Indian patients and 75 controls

  genomic peripheral probands identified pcr reverse clinical

• Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

  PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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  Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

  sids hek293 pcr whole-cell

• Sequences of complete human cytomegalovirus genomes from infected cell cultures and clinical specimens.

  PMID 19906940 · PMC2885759 · The Journal of general virology · 2010 · 8 claims · 5 setups

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  Both PCR sequencing and IGA sequencing (via de novo assembly guiding reference-dependent assembly plus PCR finishing) can successfully generate complete HCMV genome sequences from infected cell cultures and clinical specimens

  hcmv six pcr illumina reference-dependent

• Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

  PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

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  BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

  genomic pedigrees first-degree study pcr pedigree-based age

• Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

  PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

  genomic unaffected pcr targeted restriction

• Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

  PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups

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  Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.

  cos-1 cos-7 tau10-1 rt-pcr quantitative rna-fish

• The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

  PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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  NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

  blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite

• Identification of common genetic variation that modulates alternative splicing.

  PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

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  Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

  ceph lcls skipped additional rt-pcr snp resequencing

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.

  PMID 18718804 · PMC2877193 · Parkinsonism & related disorders · 2009 · 7 claims · 6 setups

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  Mutations in the coding sequence and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients.

  genomic neurologically ethnically scn8a heteroduplex pcr snp