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).

• The diploid genome sequence of an Asian individual.

  PMID 18987735 · PMC2716080 · Nature · 2008 · 8 claims · 8 setups

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  First diploid genome sequence of an Asian (Han Chinese) individual generated using massively parallel Illumina sequencing

  han donor genome genomic whole-genome g-banded snp

• Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

  PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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  Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

  genomic family carrier jarid1c dhplc allele-specific restriction

• High throughput sequencing and proteomics to identify immunogenic proteins of a new pathogen: the dirty genome approach.

  PMID 20037647 · PMC2793016 · PloS one · 2009 · 7 claims · 7 setups

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  A dirty genome approach using unfinished, unclosed genome sequences combined with proteomics can rapidly identify immunogenic proteins useful for diagnostic tool development

  parachlamydia spots coli recombinant pyrosequencing solexa gel

• Whole genome and transcriptome maps of the entirely black native Korean chicken breed Yeonsan Ogye.

  PMID 30010758 · PMC6065499 · GigaScience · 2018 · 6 claims · 7 setups

  Has reproduction · 91

  A hybrid de novo assembly combining high-depth Illumina short reads (376.6X) and low-depth PacBio long reads (9.7X) produced the YO draft genome Ogye_1.1 with contig and scaffold NG50 of 362.3 Kbp and 16.8 Mbp.

  yeonsan tissues ogye_1.1 locus whole-genome sequencing reduced

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Chromosome-level genome assembly of agar-producing red seaweed Gracilaria vermiculophylla.

  PMID 41629338 · PMC12966425 · Scientific data · 2026 · 8 claims · 8 setups

  Has reproduction · 91

  A chromosome-level genome assembly of G. vermiculophylla was generated by combining DNBSeq short reads, Nanopore long reads, and Hi-C data.

  gracilaria whole-genome nanopore hi-c

• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.

  PMID 36295018 · PMC9605557 · Life (Basel, Switzerland) · 2022 · 8 claims · 7 setups

  Has reproduction

  Transposable elements make up nearly 45% of the human genome, vastly exceeding the ~1.5% that is protein-coding.

  genome normal drosophila long short-read whole-genome synthetic

• Shotgun haplotyping: a novel method for surveying allelic sequence variation.

  PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups

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  A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly

  genomic long pcr ampicillin-resistant long cloning short

• High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

  PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups

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  BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population

  genomic pcr-amplified cdna truncation direct rt-pcr

• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.

  PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups

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  A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys

  personal genomic pcr-validated unrelated short-read pcr sanger

• BFAST: an alignment tool for large scale genome resequencing.

  PMID 19907642 · PMC2770639 · PloS one · 2009 · 7 claims · 4 setups

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  BFAST is a new algorithm and freely available software tool for aligning large-scale short-read sequencing data to large reference genomes with user-customizable speed and accuracy

  reference genome simulated real-world k-mer

• RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data.

  PMID 36339261 · PMC9626663 · iScience · 2022 · 8 claims · 4 setups

  Has reproduction · 79

  RetroSnake is an end-to-end, modular, computationally efficient Snakemake pipeline for detecting HERV-K insertions in short-read NGS data, from raw alignment files to an annotated interactive HTML report

  wgs single whole-genome nested capillary

• LMAS: evaluating metagenomic short de novo assembly methods through defined communities.

  PMID 36576131 · PMC9795473 · GigaScience · 2022 · 8 claims · 5 setups

  Has reproduction · 86

  LMAS (Last Metagenomic Assembler Standing) is a flexible, Nextflow-based, Docker-containerized automated workflow for benchmarking de novo metagenomic assemblers against defined mock communities, producing an interactive HTML report.

  zymobiomics assembled assembler-generated novo reference-based contig

• Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

  PMID 20011630 · PMC2790479 · Molecular vision · 2009 · 8 claims · 5 setups

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  MDH1 is not the causative gene for RP28-linked autosomal recessive retinitis pigmentosa

  genomic lr-pcr uhts v-4 long-range ultra sanger

• Evolution of genomic sequence inhomogeneity at mid-range scales.

  PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups

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  MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.

  chimpanzee population genome whole-genome snp indel

• The most frequent short sequences in non-coding DNA.

  PMID 19966278 · PMC2831315 · Nucleic acids research · 2010 · 8 claims · 2 setups

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  Short frequent sequences (9-14 bases) in non-coding DNA may play a role in maintaining chromosome structure and function

  whole-genome genome-wide

• Whole genome sequences of Yersinia pestis strains of ancient phylogenetic branch 0.ANT5 isolated in the 21st century in the Tien-Shan in Kyrgyzstan.

  PMID 39206953 · PMC11478111 · Microbiology resource announcements · 2024 · 6 claims · 5 setups

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  Eleven Yersinia pestis strains of the ancient phylogenetic branch 0.ANT5, isolated in the Tien Shan focus (Kyrgyzstan) in 1952, 1971, and 2013–2023, were hybrid-sequenced (MGI short reads + ONT long reads)

  yersinia whole-genome hybrid plasmid

• A chromosome-level genome assembly of Plantago ovata.

  PMID 36707685 · PMC9883528 · Scientific reports · 2023 · 8 claims · 8 setups

  Has reproduction · 99

  A chromosome-level reference genome assembly of P. ovata was constructed using PacBio long reads and Hi-C scaffolding.

  plantago ovata pacbio hi-c k-mer

• Contributions from molecular/biochemical approaches in epidemiology to cancer risk assessment and prevention.

  PMID 1486845 · PMC1519598 · Environmental health perspectives · 1992 · 8 claims · 8 setups

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  Genotoxicity of chemicals is a continuous, graded property (agent score) rather than a simple dichotomy of mutagenic vs. nonmutagenic chemicals

  chemical drosophila normal uv-sensitive short-term drosophila excision

• A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

  PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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  A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

  skeletal abductor genomic proband needle short muscle