The human gene damage index as a gene-level approach to prioritizing exome variants

The protein-coding exome of a patient with a monogenic disease contains about 20,000 variants, only one or two of which are disease causing. We found that 58% of rare variants in the protein-coding exome of the general population are located in only 2% of the genes. Prompted by this observation, we...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Proc Natl Acad Sci U S A
Κύριοι συγγραφείς: Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2015
Θέματα:
Biological Sciences
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4640721/
https://ncbi.nlm.nih.gov/pubmed/26483451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1518646112
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