Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies fall short of identifying causal variants, with estimates for success rates as low as 25% for uncovering the pathological variant underlying...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4538203/
https://ncbi.nlm.nih.gov/pubmed/25491636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.266
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