Initial impact of the sequencing of the human genome
Open accessAbstract
The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.
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Polygenicity may be a general feature of complex biomedical diseases.
“Polygenicity may be a general feature of complex biomedical diseases. 128,129”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [129]
It is possible to provide realistic estimates of power and to predict the number of new associations for each increment in sample size.
“It is possible to provide realistic estimates of power and to predict the number of new associations for each increment in sample size 128,129,140”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [129]
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Allelic Variation in Human Gene Expression
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Self-citationIntegrative Genomic Approaches Identify IKBKE as a Breast Cancer Oncogene
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Self-citationA Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
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Self-citationWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
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A distal enhancer and an ultraconserved exon are derived from a novel retroposon
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Detection of regulatory variation in mouse genes
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A Turning Point in Cancer Research: Sequencing the Human Genome
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Copy number variation and human genome maps
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Genome-scale CRISPR-Cas9 knockout screening in human cells
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The mystery of missing heritability: Genetic interactions create phantom heritability
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Self-citationGenome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496 · see citing works
A global overview of pleiotropy and genetic architecture in complex traits
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Genetic architectures of psychiatric disorders: the emerging picture and its implications
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Systems proteomics of liver mitochondria function
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AutismKB: an evidence-based knowledgebase of autism genetics
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the Human Cell Atlas ‘Biological Network’ Organoids, Bock, C., Boutros, M., Camp, J. G., Clarke, L., Clevers, H., Knoblich, J. A., Liberali, P., Regev, A., Rios, A. C., et al. (2021) · Nature Biotechnology · doi:10.1038/s41587-020-00762-x · Cited by 171 · see citing works
A Student’s Guide to Neural Circuit Tracing
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Genetic Changes Shaping the Human Brain
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Innovative solutions to novel drug development in mental health
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Dysfunction of phospholipase Cγ in immune disorders and cancer
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Disease-association analysis of an inflammation-related feedback loop
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“Because animal models do not always apply to human diseases and disorders, we also considered SNP analysis (Lander, 2011).”
BackgroundSchizophrenia Genetics: Where Next?
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Interpreting noncoding genetic variation in complex traits and human disease
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- Authors
- Lander, E. S.
- Affiliations
- Broad Institute (US)
- Corresponding author
- Lander, Eric S.
- ORCID
- Lander, Eric S.
- Venue
- Nature
- Published
- 2011-02
- Volume
- 470
- Issue
- 7333
- Pages
- 187-197
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2007807048
- Cited by
- 1,044
- References
- 102
- Citations by year
- 2026: 14 · 2025: 23 · 2024: 21 · 2023: 24 · 2022: 34 · 2021: 34 · 2020: 52 · 2019: 57 · 2018: 66 · 2017: 70 · 2016: 68 · 2015: 84 · 2014: 98 · 2013: 122 · 2012: 168
- FWCI
- 14.43
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- cc-by-nc-sa
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- Funders
- Broad Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- human genome sequencing, Human Genome Project, human genomics, DNA sequencing technologies, genomic medicine, genetic disorders, cancer genomics, human evolution, human history
- MeSH terms
- Genetics, Medical, Humans, Polymorphism, Genetic, Genome, Human, Human Genome Project, Sequence Analysis, DNA, Evolution, Molecular, Genetic Predisposition to Disease, History, 21st Century
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