Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening [0.03%]
遗传咨询师在支持伦理负责的扩展普遍携带者筛查中扮演关键角色
Lisa Dive,Lucinda Freeman,Alison McEwen
Lisa Dive
Raj Rajeshwar Malinda
Raj Rajeshwar Malinda
Alisdair McNeill
Alisdair McNeill
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations [0.03%]
450例肛门直肠畸形患者致病拷贝数变异的全基因组鉴定
Julia Fabian,Gabriel C Dworschak,Lea Waffenschmidt et al.
Julia Fabian et al.
Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut. Approximately 60% occur as a part of a defined genetic syndrome or within the spectrum of addition...
The genetic counsellor role in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors (AGNC), Endorsed by the Genetic Counsellor Registration Board (GCRB) and Academy for Healthcare Science (AHCS) [0.03%]
英国的遗传咨询师角色：遗传护士和咨询师协会（AGNC）的立场，遗传咨询师注册委员会（GCRB）和卫生保健科学学院（AHCS）认可
Anna Middleton,Nicola Taverner,Natalie Moreton et al.
Anna Middleton et al.
Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society [0.03%]
英国遗传咨询师和临床遗传学家的职业范围：遗传护士顾问协会和临床遗传学会的立场观点
Anna Middleton,Nicola Taverner,Catherine Houghton et al.
Anna Middleton et al.
This document is written on behalf of the two professional bodies in the United Kingdom that represent genetic counsellors (the Association of Genetic Nurses and Counsellors) and clinical geneticists (the Clinical Genetics Society) and aims...
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies [0.03%]
高效的测序工具用于拷贝数变异的全基因组关联研究
Joseph T Glessner,Jin Li,Yichuan Liu et al.
Joseph T Glessner et al.
Improved copy number variation (CNV) detection remains an area of heavy emphasis for algorithm development; however, both CNV curation and disease association approaches remain in its infancy. The current practice of focusing on candidate C...
Manuel Solís-Moruno,Laura Batlle-Masó,Núria Bonet et al.
Manuel Solís-Moruno et al.
Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in comparison to youn...