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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High-throughput crystallography for structural genomics.
PMID 19765976 · PMC2764548 · Current opinion in structural biology · 2009 · 8 claims · 8 setups
SG programs use genomic sequence data to select structurally novel protein targets, avoiding proteins with known structural homologues
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The global landscape of sequence diversity.
PMID 17996061 · PMC2258180 · Genome biology · 2007 · 7 claims · 5 setups
Eukaryotic sequence datasets show substantially greater genetic diversity (higher sequence/gene family discovery rates) than bacterial datasets, likely related to differences in modes of genetic inheritance.
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Polymorphix: a sequence polymorphism database.
PMID 15608242 · PMC540030 · Nucleic acids research · 2005 · 8 claims · 5 setups
Polymorphix is an ACNUC-structured database that organizes EMBL/GenBank sequences into within-species homologous sequence families using similarity and bibliographic criteria, with alignments, outgroups and phylogenetic trees provided.
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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups
A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.
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Evolutionary history of the UCP gene family: gene duplication and selection.
PMID 18980678 · PMC2584656 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
The UCP gene family arose through two ancestral gene duplications early in vertebrate evolution, producing the UCP1, UCP2 and UCP3 lineages.
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Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools.
PMID 16912992 · PMC1538848 · Nucleic acids research · 2006 · 7 claims · 8 setups
PANTHER HMMs built from family/subfamily multiple sequence alignments can classify novel protein sequences into functional groups based on statistically significant HMM match scores
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups
A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.
PMID 18500987 · PMC2426694 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
Sequences homologous to the CIDE-N domain/NCD show a wide phylogenetic distribution, from hydra and sea anemone to mammals, while true Cide proteins are restricted to vertebrates.
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Comprehensive genome analysis of 203 genomes provides structural genomics with new insights into protein family space.
PMID 16481312 · PMC1373602 · Nucleic acids research · 2006 · 8 claims · 7 setups
The number of protein families continues to expand steadily as more genomes are sequenced, showing no sign of saturation.
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Towards a comprehensive structural coverage of completed genomes: a structural genomics viewpoint.
PMID 17349043 · PMC1829165 · BMC bioinformatics · 2007 · 8 claims · 6 setups
A combined target-selection approach — pursuing both structurally uncharacterised domain families and additional targets from large structurally characterised superfamilies — is essential for comprehensive structural coverage of the genomes.
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Has reproduction · 87
A target enrichment method for gathering phylogenetic information from hundreds of loci: An example from the Compositae.
PMID 25202605 · PMC4103609 · Applications in plant sciences · 2014 · 8 claims · 8 setups
A custom sequence capture probe set (9678 baits targeting 1061 orthologous genes) was designed to enrich COS loci across the Compositae.
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Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups
No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family
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Automatic discovery of cross-family sequence features associated with protein function.
PMID 16409628 · PMC1395344 · BMC bioinformatics · 2006 · 8 claims · 6 setups
A self-supervised data mining approach can find relationships between sequence features and functional annotations without preconceived functional categories.
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TPRpred: a tool for prediction of TPR-, PPR- and SEL1-like repeats from protein sequences.
PMID 17199898 · PMC1774580 · BMC bioinformatics · 2007 · 7 claims · 8 setups
TPRpred detects divergent/remote-homolog TPR repeat units that existing resources (Pfam, SMART, REP) fail to detect
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Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups
A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS
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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.
PMID 18718804 · PMC2877193 · Parkinsonism & related disorders · 2009 · 7 claims · 6 setups
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.
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Population diversity and antibody selective pressure to Plasmodium falciparum MSP1 block2 locus in an African malaria-endemic setting.
PMID 19832989 · PMC2770483 · BMC microbiology · 2009 · 8 claims · 5 setups
The relative proportion of the three Pfmsp1 block2 allelic families (K1, Mad20, RO33) in Dielmo showed no significant temporal fluctuation over a 10-year period (1990-99).
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A survey of integral alpha-helical membrane proteins.
PMID 19760129 · PMC2780624 · Journal of structural and functional genomics · 2009 · 8 claims · 8 setups
An automated annotation pipeline defines the integral membrane genome and family associations for 21,379 proteins from 34 genomes, most belonging to 598 Pfam-derived membrane protein families.