A probabilistic method for identifying rare variants underlying complex traits

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A Novel Approach for the Simultaneous Analysis of Common and Rare Variants in Complex Traits

Genome-wide association studies (GWAS) have been successful in detecting common genetic variants underlying common traits and diseases. Despite the GWAS success stories, the percent trait variance explained by GWAS signals, the so called "missing heritability" has been, at best, modest. Also, the predictive power of common variants identified by GWAS has not been encouraging. Given these observ...

متن کامل

A data-driven method for identifying rare variants with heterogeneous trait effects.

Collapsing multiple variants into one variable and testing their collective effect is a useful strategy for rare variant association analysis. Direct collapsing, however, is not valid or may significantly lose power when a group of variants to be collapsed have heterogeneous effects on target traits (i.e. some positive and some negative). This could be especially true for quantitative traits (s...

متن کامل

On Robust Association Testing for Quantitative Traits and Rare Variants

With the advance of sequencing technologies, it has become a routine practice to test for association between a quantitative trait and a set of rare variants (RVs). While a number of RV association tests have been proposed, there is a dearth of studies on the robustness of RV association testing for nonnormal distributed traits, e.g., due to skewness, which is ubiquitous in cohort studies. By e...

متن کامل

Detecting rare variants for quantitative traits using nuclear families.

With the advent of sequencing technology opening up a new era of personal genome sequencing, huge amounts of rare variant data have suddenly become available to researchers seeking genetic variants related to human complex disorders. There is an urgent need for the development of novel statistical methods to analyze rare variants in a statistically powerful manner. While a number of statistical...

متن کامل

New insights into old methods for identifying causal rare variants

The advance of high-throughput next-generation sequencing technology makes possible the analysis of rare variants. However, the investigation of rare variants in unrelated-individuals data sets faces the challenge of low power, and most methods circumvent the difficulty by using various collapsing procedures based on genes, pathways, or gene clusters. We suggest a new way to identify causal rar...

متن کامل

ذخیره 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: BMC Genomics

سال: 2013

ISSN: 1471-2164

DOI: 10.1186/1471-2164-14-s1-s11