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).

• SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

  PMID 16845091 · PMC1538889 · Nucleic acids research · 2006 · 8 claims · 4 setups

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  SNPmasker is a web service combining SNP masking and repeat masking, supporting both coordinate-defined and homology-search-defined input regions, a combination not offered by prior tools

  genome reference genomic runtime sequence comparative

• A model-based approach to selection of tag SNPs.

  PMID 16776821 · PMC1525207 · BMC bioinformatics · 2006 · 7 claims · 5 setups

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  The Li and Stephens hidden Markov model outperforms other tested models (simple Markov, two-state HMM, HMM-4D, greedy GR-1/GR-2) in description code-length, tag set information content, and prediction of tagged SNPs.

  hapmap encode enr112 tag cross-validated entropy tagged

• The fragile breakage versus random breakage models of chromosome evolution.

  PMID 16501665 · PMC1378107 · PLoS computational biology · 2006 · 8 claims · 6 setups

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  Sankoff and Trinh's synteny block identification algorithm (ST-Synteny) is flawed, producing erroneous block identifications even in small toy examples.

  small synthetic synteny random whole-genome

• Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

  PMID 17480121 · PMC1865561 · PLoS genetics · 2007 · 7 claims · 8 setups

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  KLF14 is a novel imprinted gene showing monoallelic maternal expression in embryonic and extra-embryonic tissues of both human and mouse

  embryonic fetal monochromosomal fibroblasts allele-specific rt-pcr chromatin

• Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

  PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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  A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

  enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding

• No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

  PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

  germline genomic identified individuals sequencing pcr mlpa

• A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

  PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups

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  A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.

  patients genomic family cerkl ophthalmic homozygosity multipoint

• Complete genome sequence and comparative analysis of the wild-type commensal Escherichia coli strain SE11 isolated from a healthy adult.

  PMID 18931093 · PMC2608844 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2008 · 8 claims · 6 setups

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  The SE11 genome comprises a 4.8 Mb chromosome encoding 4679 protein-coding genes and six plasmids encoding 323 protein-coding genes

  coli se11 rapd whole-genome gene

• SIGMA2: a system for the integrative genomic multi-dimensional analysis of cancer genomes, epigenomes, and transcriptomes.

  PMID 18840289 · PMC2571113 · BMC bioinformatics · 2008 · 8 claims · 6 setups

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  SIGMA2 is a Java-based software system that integrates and visualizes genomic, epigenomic, and transcriptomic cancer data.

  single hcc2218 nsclc array gene multi-omics

• Sex-biased evolutionary forces shape genomic patterns of human diversity.

  PMID 18818765 · PMC2538571 · PLoS genetics · 2008 · 7 claims · 5 setups

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  X-linked diversity is higher than the neutral expectation (0.75) relative to autosomal diversity in all six sampled human populations

  humans population simulated computational resequencing coalescent-based coalescent

• 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

• Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

  PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups

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  Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome

  peripheral cheek genomic twin factor karyotype microsatellite

• Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

  PMID 18625075 · PMC2478679 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  A synonymous coding SNP (rs2099489) in CHRNG is associated with higher systolic blood pressure in both the Old Order Amish (AFDS) and the Framingham Heart Study

  amish non-first-degree-relative afds framingham variance direct snp

• Comparing whole genomes using DNA microarrays.

  PMID 18347592 · PMC7097741 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups

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  DNA microarrays offer a relatively inexpensive and efficient alternative to genome sequencing for comparing all known classes of genomic diversity between closely related genomes.

  genome saccharomyces mitochondrial sars array comparative resequencing

• Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

  PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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  BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

  genomic unrelated best1 best1-4 direct chromosome pathogenicity

• Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

  PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups

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  3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array

  same caucasian cau autosomal snp copy population

• Remodeling of XIST regulatory landscape during primate evolution.

  PMID 41544163 · PMC12810636 · Science advances · 2026 · 8 claims · 8 setups

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  XIST regulation has diverged uniquely and rapidly between closely related primates: JPX is a major XIST regulator in human and marmoset ESCs but only a minor regulator in macaque ESCs

  lyon-es1 rna-fish bulk capture

• pmid-41760692

  PMID 41760692 · PMC13066446 · 7 claims · 9 setups

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  A. haimaensis genome was assembled to chromosome level (4.27 Gb, scaffold N50 195.52 Mb, anchored to 22 chromosomes) using PacBio HiFi, Illumina, and Hi-C sequencing

  acharax haimaensis illumina pacbio hi-c

• More biology from the sequence.

  PMID 11532209 · PMC138951 · Genome biology · 2001 · 8 claims · 8 setups

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  The Schizosaccharomyces pombe genome has been sequenced to completion with no gaps, telomere to telomere.

  schizosaccharomyces chromosome genome cervical whole-genome sequence genome

• arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.

  PMID 15910681 · PMC1173083 · BMC bioinformatics · 2005 · 8 claims · 4 setups

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  arrayCGHbase is a MIAME-compliant, web-based database and analysis platform that stores, analyzes, interprets, compares, and visualizes arrayCGH data in a uniform format.

  hellemans boy distal cancer arraycgh