Reference library

12 entries

• Reference resource2023· Population Genomics

  A draft human pangenome reference

  Nature 617:312–324

  A graph reference intended to reduce ancestry bias.

• Landmark study2022· Long-Read Sequencing

  The complete sequence of a human genome

  Science 376:44–53

  The telomere-to-telomere assembly completing previously unresolved regions.

• Landmark study2021· Machine Learning for Genomics

  Highly accurate protein structure prediction with AlphaFold

  Nature 596:583–589

  Structure prediction at scale, now used as supporting evidence in variant assessment.

• Landmark study2021· Rare Disease Genomics

  100,000 Genomes pilot on rare-disease diagnosis in health care

  New England Journal of Medicine 385:1868–1880

  Diagnostic yield of whole-genome sequencing in a national health system.

• Guideline / standard2021· Pharmacogenomics

  Clinical Pharmacogenetics Implementation Consortium guidelines

  Clinical Pharmacology & Therapeutics

  Gene-drug prescribing recommendations maintained as living guidance.

• Reference resource2020· Population Genomics

  The mutational constraint spectrum quantified from variation in 141,456 humans

  Nature 581:434–443

  The gnomAD constraint and allele frequency reference.

• Reference resource2020· Functional Genomics

  The GTEx Consortium atlas of genetic regulatory effects across human tissues

  Science 369:1318–1330

  Tissue-resolved expression quantitative trait loci.

• Reference resource2017· Single-Cell Genomics

  The Human Cell Atlas

  eLife 6:e27041

  The founding description of the single-cell reference atlas effort.

• Guideline / standard2015· Variant Interpretation

  Standards and guidelines for the interpretation of sequence variants

  Genetics in Medicine 17:405–424

  The classification framework used across diagnostic laboratories.

• Reference resource2012· Functional Genomics

  An integrated encyclopedia of DNA elements in the human genome

  Nature 489:57–74

  Systematic annotation of candidate functional elements.

• Landmark study2001· Human Genome Architecture

  Initial sequencing and analysis of the human genome

  Nature 409:860–921

  The public draft sequence of the human genome.

• Landmark study2001· Human Genome Architecture

  The sequence of the human genome

  Science 291:1304–1351

  The parallel whole-genome shotgun assembly.