Taming the genome: Towards better genetic test interpretation

Genome Medicine

Volumn 8, Issue 1, 2016, Pages

  Caleshu, Colleen ^a,b   Ashley, Euan A ^a,b,c  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN;

CARDIOMYOPATHY; EXOME; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIATION; HUMAN; HUMAN GENOME; LABORATORY TEST; MOLECULAR GENETICS; MYH7 GENE; NOTE; PATHOGENICITY; PRACTICE GUIDELINE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; DNA SEQUENCE; HIGH THROUGHPUT SEQUENCING; INFORMATION DISSEMINATION; PROCEDURES; STANDARDS;

GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFORMATION DISSEMINATION; PRACTICE GUIDELINES AS TOPIC; SEQUENCE ANALYSIS, DNA;

EID: 84977644453     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-016-0325-9     Document Type: Note

References (11)

1. Weintraub A. Is the cure for obesity written in our genes? Forbes. 2016. http://www.forbes.com/sites/arleneweintraub/2016/05/18/is-the-cure-for-obesity-written-in-our-genes/#30dfc6e5cde0. Accessed 8 June 2016.
2. Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv. 2016. http://dx.doi.org/10.1101/030338.
3. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen-The Clinical Genome Resource. N Engl J Med. 2015;372:2235-42.
4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24.
5. Amendola LM, Jarvik GP, Leo M, McLaughlin HM, Akkari H, Amaral M, et al. Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research (CSER) consortium. Am J Hum Genet. 2016;6:1067-76.
6. Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, et al. Clinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet. 2016;98:1051-66.
7. Caleshu C, Kelly M, Morales A, Ashley E, Hershberger R, Funke B. Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants. 2015. Poster presented at the 65th meeting of the American Society of Human Genetics, Baltimore, MD, USA, 6-10 October 2015. http://www.ashg.org/2015meeting/pdf/57715_Posters.pdf. Poster 545 T, p. 66. Accessed 8 June 2016.
8. Harrison SM, Dolinsky JS, Vincent L, Johnson AK, Chao EC, Azzariti DR, et al. Clinical laboratories implement the ACMG/AMP guidelines to resolve differences in variant interpretations submitted to ClinVar. 2016. Paper presented at the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Tampa Convention Center, Tampa, FL, 9-11 March 2016. https://acmg.expoplanner.com/index.cfm?do=expomap.sess&event_id=7&session_id=1532. Accessed 8 June 2016.
9. Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, et al. Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. Proc Natl Acad Sci U S A. 2016. doi: 10.1073/pnas.1606950113.
10. Walsh R, Thomson K, Ware JS, Funke BH, Woodley J, McGuire KJ, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. bioRxiv. 2016. http://dx.doi.org/10.1101/041111.
11. Wilson M, Drezner J, Sharma S. IOC manual of sports cardiology. 1st ed. New Jersey: Wiley-Blackwell, 2016.