Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition

Leslie G Biesecker¹, Robert L Nussbaum^{2

3}, Heidi L Rehm^{4

5}

Affiliations

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
² University of California, San Francisco.
³ Invitae Corp, San Francisco, California.
⁴ Center for Genomic Medicine, Massachusetts General Hospital, Boston.
⁵ Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Leslie G Biesecker et al. JAMA. 2018.

. 2018 Nov 13;320(18):1929-1930.

doi: 10.1001/jama.2018.14900.

Leslie G Biesecker¹, Robert L Nussbaum^{2

3}, Heidi L Rehm^{4

5}

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
² University of California, San Francisco.
³ Invitae Corp, San Francisco, California.
⁴ Center for Genomic Medicine, Massachusetts General Hospital, Boston.
⁵ Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

No abstract available

MeSH terms