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).

• Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans.

  PMID 19860882 · PMC2775748 · BMC genetics · 2009 · 8 claims · 8 setups

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  A set of 47 SNPs selected via the 4gen pairwise F_ST approach serves as an ASM panel distinguishing four continental groups (African, Eurasian, Asian/Oceanian, Native American)

  ycc individuals hgdp-ceph asm snp structure pairwise

• Genomics and biology come together to fight HIV.

  PMID 18366259 · PMC2270331 · PLoS biology · 2008 · 8 claims · 6 setups

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  Genome-wide association studies have identified ~100 genetic polymorphisms robustly (genome-wide significant) linked to common human traits/diseases, but the biological mechanisms behind most remain unknown.

  ceph hiv-positive elledge heritability linkage modified

• Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

  PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

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  A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

  genomic wfs1 ceph affected pcr sanger population

• CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.

  PMID 16504045 · PMC1402331 · BMC bioinformatics · 2006 · 8 claims · 5 setups

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  CARAT is a novel algorithm that uses SNP probe intensity and genotype-based allelic dosage response in a regression framework to estimate allele-specific copy number genome-wide.

  normal genomic sk-br-3 cancer snp quantitative allele-specific

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding

• Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.

  PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups

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  Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP

  genomic plco hapmap computational targeted long-range genotype

• 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

• Identification of genomic regions contributing to etoposide-induced cytotoxicity.

  PMID 19089452 · PMC2714550 · Human genetics · 2009 · 7 claims · 6 setups

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  Etoposide-induced cytotoxicity in CEPH lymphoblastoid cell lines is heritable, with genetics explaining 17-25% of variation

  ceph subset hapmap simulated growth heritability non-parametric

• The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

  PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups

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  No CDX2 mutations predisposing to sporadic colorectal cancer were identified

  genomic pcr cdna informative sscp pcr automated

• Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

  PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups

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  Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes

  qbl pgf classical ceph bac comparative gene

• Analysis of sequence conservation at nucleotide resolution.

  PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups

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  SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.

  encode population comparative snp functional

• Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.

  PMID 18193213 · PMC2206249 · Immunogenetics · 2008 · 8 claims · 6 setups

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  Comparison of eight HLA-homozygous MHC haplotype sequences identified >44,000 variations (substitutions and indels), submitted to dbSNP

  hla-homozygous same mhc indel clone-by-clone gene hla

• Sequence determinants of human microsatellite variability.

  PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups

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  Mean and maximum number of repeats across individuals are positively correlated with heterozygosity

  hgdp-ceph genome calibrated microsatellite blastn sequence

• MSH6 missense mutations are often associated with no or low cancer susceptibility.

  PMID 15354210 · PMC2409912 · British journal of cancer · 2004 · 7 claims · 8 setups

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  Most MSH6 missense changes found in MSI-positive tumours are likely clinically innocent or of low cancer-susceptibility significance

  microdissected blood individuals paraffin-embedded microsatellite exon sscp

• Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

  PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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  Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

  pedigrees pedigree genomic ubiad1 microsatellite fine direct

• Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

  PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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  Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

  build chimpanzee unrelated ceph comparative three-color pcr

• Allelotyping of pooled DNA with 250 K SNP microarrays.

  PMID 17367522 · PMC1839100 · BMC genomics · 2007 · 8 claims · 5 setups

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  The polynomial based probe specific correction (PPC) algorithm is the most accurate method for estimating allele frequency from pooled DNA.

  pool nspi individual snp individual call

• Sequencing of human genomes with nanopore technology.

  PMID 31015479 · PMC6478738 · Nature communications · 2019 · 8 claims · 7 setups

  Has reproduction · 75

  A novel single-sample, reference panel-free, read-based phasing algorithm built on the STITCH model improves nanopore SNV calling from modest baseline levels.

  gm12878 na12878 clinical whole-genome snv read-based

• The genetics of regulatory variation in the human genome.

  PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups

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  Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.

  ceph immortalised lymphoblastoid individuals reporter allelic microarray

• Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

  PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups

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  Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample

  estonian hapmap ceu snp tagsnp marker