Taming the genome: towards better genetic test interpretation.
Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease-gene specific guidelines, and computational analyses using big data.
Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Drive, Stanford, CA, 94305, USA.|Department of Pediatrics, Division of Medical Genetics, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Colleen
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Caleshu
Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.|Department of Medicine, Division of Cardiovascular Medicine, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.|Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.|Stanford Clinical Genome Service, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.
Euan A
EA
Ashley
D005820:Genetic Testing / Q000592:standards*; D014644:Genetic Variation; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D033181:Information Dissemination; D017410:Practice Guidelines as Topic; D017422:Sequence Analysis, DNA / Q000379:methods*