Population genetic screening: current issues in a European country
Author:
Funder
Direction Générale de l'offre de Soins
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0425-2.pdf
Reference10 articles.
1. van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, et al. Whole genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580–4.
2. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–74.
3. Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P, et al. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programs. Eur J Hum Genet. 2015;23:1593–600.
4. Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, et al. Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017;139(Suppl 3):S216–25.
5. Jain CV, Kadam L, van Dijk M, Kohan-Ghadr HR, Kilburn BA, Hartman C, et al. Fetal genome profiling at 5 weeks of gestation after non-invasive isolation of trophoblast cells from the endocervical canal. Sci Transl Med. 2016;8:363re4.
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