Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Amanda Lordemann"'
Autor:
William Dahl, Amanda Lordemann, Chih-wen Ou-yang, Rajini R Haraksingh, J. Lin, Marisa P. Dolled-Filhart
Publikováno v:
Personalized Medicine. 9:805-819
A decade after the complete sequencing of the human genome, combined with recent advances in throughput and sequencing costs, the genetics of rare diseases has entered a new era. There has now been an explosion in the identification and mapping of ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1585a13b9a8c516cf6df9e0f9c0c74
https://doi.org/10.2217/pme.12.97
https://doi.org/10.2217/pme.12.97
Publikováno v:
Expert review of molecular diagnostics. 14(4)
Genomics has revolutionized the study of rare diseases. In this review, we overview the latest technological development, rare disease discoveries, implementation obstacles and bioethical challenges. First, we discuss the technology of genome and exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2890f7c066fe5d0e6d89cb432cdd78b
https://pubmed.ncbi.nlm.nih.gov/24702023
https://pubmed.ncbi.nlm.nih.gov/24702023
Publikováno v:
Communications in Medical and Care Compunetics ISBN: 9783642386428
In the field of human genetic diseases, approximately 7,000 different diseases account for approximately 10 % of the total disease prevalence. For rare disease research, it is a very difficult task for a central, top–down entity to create and fund
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ba2a6bb0b819baf2bb4e1849d78130d
https://doi.org/10.1007/978-3-642-38643-5_5
https://doi.org/10.1007/978-3-642-38643-5_5
