Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
نویسنده
چکیده
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 Genetics Unit, Massachusetts General Hospital, Boston MA, USA Broad Institute or MIT and Harvard, Cambridge MA, USA Computer Science and Engineering, Chinese University of Hong Kong, Hong Kong, China. Exome Aggregation Consortium (ExAC), Cambridge MA, USA Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston MA, USA Department of Medicine, Harvard Medical School, Boston MA, USA
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 کاملLoss-of-function variants in the genomes of healthy humans.
Genetic variants predicted to seriously disrupt the function of human protein-coding genes-so-called loss-of-function (LOF) variants-have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly large number of these variants in the genomes of apparently healthy individuals--at least 100 per...
متن کاملIdentification of Pattern used in Determination of Critical Success Factors in ITS Projects, Case Study: Road Maintenance and Transportation Organization
One of the risks recognized by relevant authorities is the risk of outsourcing ITS projects. The purpose of this study was to design and explain the pattern of determining the critical success factors in outsourcing large-scale ITS projects in the Ministry of Roads and Urban Development (Road Maintenance and Transportation Organization). This study was performed using qualitative method. The pa...
متن کاملOptimization and Construction of Human Insulin-like Growth Factor 1 Gene related to human health
Background and aims: Laron syndrome is a disease that treated by Insulin-like Growth Factor 1 (IGF-1). This protein is a single chain and has three disulfide bonds. People with Laron syndrome have low rates of cancer and diabetes, although they appear to be at increased risk of casual death due to their stature. IGF-1 is synthesized by many tissues and is secreted from liver as an endocrine hor...
متن کاملTranscriptome Sequencing of Guilan Native Cow in Comparison with bosTau4 Reference Genome
RNA-sequencing is a new method of transcriptome characterization of organisms. Based on identity and relatedness, there are large genetic variations among different cattle breeds. The goal of the current study was to sequence the transcriptome of Guilan native cow and compare with available reference genome using RNA-sequencing method. Blood samples were collected from 14 Guilan native cows and...
متن کامل