Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
نویسندگان
چکیده
منابع مشابه
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
As new proposals aim to sequence ever larger collection of humans, it is critical to have a quantitative framework to evaluate the statistical power of these projects. We developed a new algorithm, UnseenEst, and applied it to the exomes of 60,706 individuals to estimate the frequency distribution of all protein-coding variants, including rare variants that have not been observed yet in the cur...
متن کاملQuantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur Microsoft Research, One Memorial Drive, Cambridge MA, USA Computer Science Department, Stanford University, Palo Alto CA, USA Computer Science Department, Brown University, Providence RI, USA Analytic and Translational...
متن کاملA Fuzzy Decision-Making Methodology for Risk Response Planning in Large-Scale Projects
Risk response planning is one of the main phases in the project risk management and has major impacts on the success of a large-scale project. Since projects are unique, and risks are dynamic through the life of the projects, it is necessary to formulate responses of the important risks. The conventional approaches tend to be less effective in dealing with the impreciseness of risk response p...
متن کاملOptical mapping and its potential for large-scale sequencing projects.
Physical mapping has been rediscovered as an important component of large-scale sequencing projects. Restriction maps provide landmark sequences at defined intervals, and high-resolution restriction maps can be assembled from ensembles of single molecules by optical means. Such optical maps can be constructed from both large-insert clones and genomic DNA, and are used as a scaffold for accurate...
متن کاملAssessing protein coding region integrity in cDNA sequencing projects
MOTIVATION In cDNA sequencing projects, it is vital to know whether the protein coding region of a sequence is complete, or whether errors have occurred during library construction. Here we present a linear discriminant approach that predicts this completeness by estimating the probability of each ATG being the initiation codon. RESULTS Because of the current shortage of full-length cDNA data...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Communications
سال: 2016
ISSN: 2041-1723
DOI: 10.1038/ncomms13293