Global genetic carrier testing: A vision for the future

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Beaudet, Arthur L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME TRANSLOCATION; COPY NUMBER VARIATION; DUCHENNE MUSCULAR DYSTROPHY; ETHNICITY; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CARRIER TESTING; GENETIC SCREENING; HEMOGLOBINOPATHY; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; NEXT GENERATION SEQUENCING; NOTE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

EID: 84938208574     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0204-9     Document Type: Note

References (11)

1. Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M. Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet. 1974;10:103-34.
2. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-73.
3. Williamson R. Universal community carrier screening for cystic fibrosis? Nat Genet. 1993;3:195.
4. Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online. 2010;21:537-51.
5. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3:65ra4.
6. The Human Variome Project. http://www.humanvariomeproject.org/ .
7. ClinVar. http://www.ncbi.nlm.nih.gov/clinvar/ .
8. Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol. 2015;125:653-62.
9. WHP: Genes and human disease. http://www.who.int/genomics/public/geneticdiseases/en/index2.html .
10. Krawczak M, Caliebe A, Croucher PJ, Schmidtke J. On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report. Genet Test. 2007;11:417-19.
11. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565-74.