The New Genomics: Global Views of Biology
Abstract
What will happen after a complete sequence of the human genome is available? Eric Lander argues that it will be the beginning of a new phase of research. He presents 10 goals for the future that are related to a global view of biology. The author is at the Whitehead Institute for Biomedical Research and the Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
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Genome-wide association studies have demonstrated that the common disease-common variant hypothesis of human diseases is broadly true, where disease risk is driven by many common variants, each explaining a small fraction of risk in a population.
“These studies have demonstrated that the common disease–common variant hypothesis of human diseases29 is broadly true, where disease risk is driven by many common variants, each of which explains a small fraction of the risk in a population.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [29]
Linkage analyses in extended multiple sclerosis affected families validated the HLA association but showed no significant linkage to loci outside the MHC.
“These validated the HLA association but showed no significant linkage to loci outside the MHC.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [29]
The common disease-common variant hypothesis has been refuted by the missing heritability problem.
“When GWAS began the field was dominated by the simple common disease-common variant (CD-CV) hypothesis1–4 has been refuted in light of the so-called ‘missing heritability problem’”
From Rare and common variants: twenty arguments (2012) · cites this paper as [1]
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- Authors
- Lander, E. S.
- Affiliations
- Whitehead Institute for Biomedical Research (US)
- Corresponding author
- Lander, Eric S.
- ORCID
- Lander, Eric S.
- Venue
- Science
- Published
- 1996-10-25
- Volume
- 274
- Issue
- 5287
- Pages
- 536-539
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2079501979
- Cited by
- 1,174
- References
- 8
- Citations by year
- 2026: 11 · 2025: 17 · 2024: 18 · 2023: 11 · 2022: 26 · 2021: 25 · 2020: 13 · 2019: 29 · 2018: 19 · 2017: 24 · 2016: 20 · 2015: 32 · 2014: 38 · 2013: 46 · 2012: 47
- FWCI
- 406.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Topics
- Social Sciences › Arts and Humanities › History and Philosophy of Science › Philosophy and History of Science
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- human genome sequencing, postgenomics, genomics
- MeSH terms
- Animals, Bioethics, DNA, Genetic Techniques, Humans, Molecular Biology, Proteins, RNA, Genetic Variation, Gene Expression, Human Genome Project, Sequence Analysis, DNA, Mice
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