Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., “whole exome”) have the potential to contribute to the und...

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Autori principali: Choi, Murim, Scholl, Ute I., Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R., Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Ayșin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2009
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2768590/
https://ncbi.nlm.nih.gov/pubmed/19861545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0910672106
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