// References
Anchor literature
Primary references underpinning each module — pivotal trials, framework papers, and population-scale resources.
Module 01 · The Human Genome at Scale
The complete sequence of a human genome
Nurk et al., Science 2022
Module 01 · The Human Genome at Scale
A draft human pangenome reference
Liao et al., Nature 2023
Module 02 · Reading the Genome: Platforms & Modalities
Long-read human genome sequencing and its applications
Logsdon, Vollger & Eichler, Nat Rev Genet 2020
Module 02 · Reading the Genome: Platforms & Modalities
Nanopore sequencing technology, bioinformatics and applications
Wang et al., Nat Biotechnol 2021
Module 03 · Variant Interpretation: ACMG, VUS, and Penetrance
Standards and guidelines for the interpretation of sequence variants (ACMG/AMP 2015)
Richards et al., Genet Med 2015
Module 03 · Variant Interpretation: ACMG, VUS, and Penetrance
Calibration of computational tools for missense variant pathogenicity
Pejaver et al., AJHG 2022
Module 04 · Pharmacogenomics in Practice
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: PREPARE study
Swen et al., Lancet 2023
Module 04 · Pharmacogenomics in Practice
CPIC Guidelines (live)
cpicpgx.org
Module 05 · Cancer Genomics: Germline, Somatic, and Liquid
The repertoire of mutational signatures in human cancer
Alexandrov et al., Nature 2020
Module 05 · Cancer Genomics: Germline, Somatic, and Liquid
Circulating tumor DNA analysis in adjuvant colorectal cancer (DYNAMIC)
Tie et al., NEJM 2022
Module 06 · Polygenic Risk & Early Warning
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
Khera et al., Nat Genet 2018
Module 06 · Polygenic Risk & Early Warning
Polygenic prediction across ancestries
Martin et al., Nat Genet 2019
Module 07 · The Epigenome and Methylation Clocks
DNA methylation GrimAge strongly predicts lifespan and healthspan
Lu et al., Aging 2019
Module 07 · The Epigenome and Methylation Clocks
DunedinPACE, a DNA methylation biomarker of the pace of aging
Belsky et al., eLife 2022
Module 08 · Lifestyle Inputs to the Epigenome
Effect of long-term caloric restriction on DNA methylation measures of biological aging
Waziry et al., Nat Aging 2023 (CALERIE)
Module 09 · CRISPR Therapeutics: From Casgevy to In Vivo
Exagamglogene autotemcel for severe sickle cell disease
Frangoul et al., NEJM 2024
Module 09 · CRISPR Therapeutics: From Casgevy to In Vivo
CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis
Gillmore et al., NEJM 2021 (NTLA-2001)
Module 09 · CRISPR Therapeutics: From Casgevy to In Vivo
Search-and-replace genome editing without double-strand breaks (prime editing)
Anzalone et al., Nature 2019
Module 10 · Beyond CRISPR: ASO, siRNA, mRNA, AAV, and Cell Therapy
Inclisiran for the treatment of heterozygous familial hypercholesterolemia (ORION-9)
Raal et al., NEJM 2020
Module 10 · Beyond CRISPR: ASO, siRNA, mRNA, AAV, and Cell Therapy
Anti-CD19 CAR T-cell therapy for refractory systemic lupus erythematosus
Mougiakakos et al., NEJM 2021
Module 11 · Clonal Hematopoiesis & Aging Genomes
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal et al., NEJM 2014
Module 11 · Clonal Hematopoiesis & Aging Genomes
Prediction of risk of myeloid malignancy in clonal hematopoiesis (CHRS)
Weeks et al., NEJM Evid 2023
Module 12 · Ethics, Equity, and the Germline Question
Heritable Human Genome Editing — International Commission report
NASEM/Royal Society 2020
Module 12 · Ethics, Equity, and the Germline Question
ACMG SF v3.2 list for reporting of secondary findings
Miller et al., Genet Med 2023