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whole-genome-sequencing
3 studies tagged whole-genome-sequencing, dated 2015-09-01 to 2022-03-14. Bibliography: BibTeX (.bib) · RIS (.ris)
Newest in this topic
- Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain 2022-03-14
- Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project 2017-01-04
- Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease 2015-09-01
Studies
3 studies carry this tag.
Date range
2015 to 2022
Top journals
- European journal of human genetics : EJHG 1
- Molecular psychiatry 1
- Nature neuroscience 1
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Structural variants (SVs), which are genomic rearrangements of more than 50 base pairs, are an important source of genetic diversity and have been linked to many diseases.
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Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges.
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We have sequenced the complete genomes of 72 individuals affected with early-onset familial Alzheimer's disease caused by an autosomal dominant, highly penetrant mutation in the presenilin-1 (PSEN1) gene, and performed genome-wide association testing to identify variants that modify age at onset (AAO) of Alzheimer's disease.