Taming the genome: towards better genetic test interpretation

Colleen Caleshu; Euan A Ashley

doi:10.1186/s13073-016-0325-9

Taming the genome: towards better genetic test interpretation

Genome Med. 2016 Jun 20;8(1):70. doi: 10.1186/s13073-016-0325-9.

Authors

Colleen Caleshu^{1

2}, Euan A Ashley^{3

4

5

6}

Affiliations

¹ Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Drive, Stanford, CA, 94305, USA.
² Department of Pediatrics, Division of Medical Genetics, 300 Pasteur Drive, Stanford, CA, 94305, USA.
³ Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.
⁴ Department of Medicine, Division of Cardiovascular Medicine, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.
⁵ Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.
⁶ Stanford Clinical Genome Service, 300 Pasteur Drive, Stanford, CA, 94305, USA. euan@stanford.edu.

Abstract

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.

MeSH terms

Genetic Testing / standards*
Genetic Variation
Genome, Human
High-Throughput Nucleotide Sequencing / methods*
Humans
Information Dissemination
Practice Guidelines as Topic
Sequence Analysis, DNA / methods*