The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Genome Med
| Authors | |
| Abstract | Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS. |
| Year of Publication | 2020
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| Journal | Genome Med
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| Volume | 12
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| Issue | 1
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| Pages | 48
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| Date Published | 2020 May 27
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| ISSN | 1756-994X
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| DOI | 10.1186/s13073-020-00748-z
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| PubMed ID | 32460895
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