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).

• A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

  PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups

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  A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)

  family genomic 10-member wfs1 pure direct pcr-rflp

• Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

  PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups

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  Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)

  family p2ry5 affected snp microsatellite sanger

• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

  PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

  family genomic unrelated gja8 clinical microsatellite sequencing

• A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

  PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups

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  A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.

  genomic patients affected tgfbi pcr clinical visual

• A third approach to gene prediction suggests thousands of additional human transcribed regions.

  PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups

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  A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.

  genome 4.4-mb known nucleotide repeat polyadenylation

• Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

  PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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  A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

  consanguineous same affected family sanger multiplex microsatellite

• Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).

  PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups

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  89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones

  normalized rainbow salmonids microsatellite sanger pcr

• The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologists.

  PMID 17712414 · PMC1942082 · PloS one · 2007 · 8 claims · 5 setups

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  P-POD is the first comparative genomics database to combine results from multiple computational ortholog/homolog prediction methods with manually curated literature-derived experimental evidence of functional conservation.

  sequences orthomcl yeast orthomcl jaccard phylogenetic

• Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

  PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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  Mutations in USH2A are responsible for most cases of USH2

  genomic family probands ush2a direct restriction single

• Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

  PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups

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  Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.

  genomic myoc poag pcr amino clinical

• Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

  PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

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  Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

  genomic somali sri ethnically dhplc snp sanger

• Analysis of recent segmental duplications in the bovine genome.

  PMID 19951423 · PMC2796684 · BMC genomics · 2009 · 8 claims · 6 setups

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  Recently duplicated sequence (≥1 kb, ≥90% identity) comprises 3.11% (94.4 Mb) of the bovine genome assembly (Btau_4.0)

  bos bovine genes cattle genome fluorescent repeat

• The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.

  PMID 19800201 · PMC2783814 · Schizophrenia research · 2009 · 8 claims · 7 setups

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  Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample

  irish chimpanzee dtnbp1 snp haplotype case

• TEPEAK: A novel method for identifying and characterizing polymorphic transposable elements in non-model species populations.

  PMID 41494038 · PMC12788660 · PLoS computational biology · 2026 · 8 claims · 6 setups

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  TEPEAK identifies and characterizes polymorphic TEs in populations without any prior TE sequence or loci information, using only a chromosome-level reference assembly.

  horse pooled sequences consensus whole-genome insertion hierarchical

• Coiled-coil protein composition of 22 proteomes--differences and common themes in subcellular infrastructure and traffic control.

  PMID 16288662 · PMC1322226 · BMC evolutionary biology · 2005 · 7 claims · 5 setups

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  Proteins with extended coiled-coil domains (>250 amino acids) are largely absent from bacterial genomes but present in archaea and eukaryotes.

  proteomes predicted long prokaryotic coiled-coil all-against-all sequence

• NovelFam3000--uncharacterized human protein domains conserved across model organisms.

  PMID 16533400 · PMC1440326 · BMC genomics · 2006 · 8 claims · 7 setups

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  NovelFam3000 is an online data centre unifying bioinformatics resource links, news, comments, and user-submitted experimental data (including a Gene Characterization Index) for ~3000 uncharacterized Pfam-B/DUF domain families conserved across worm, fly, and human

  lines mammalian hek drosophila rt-pcr immunofluorescence counterstaining

• Identifying repeat domains in large genomes.

  PMID 16507140 · PMC1431705 · Genome biology · 2006 · 7 claims · 5 setups

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  A repeat domain graph, built using a modified A-Bruijn graph framework, decomposes a repeat library into shared repeat domains and reveals the mosaic structure of repeat families.

  repbase elegans concatenated repeat comparative dot

• PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

  PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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  Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

  genomic pcr additional cat linkage direct heteroduplex