TACLing rare genetic variants
نویسندگان
چکیده
منابع مشابه
Rare Genetic Variants and High-Density Lipoprotein
Although static plasma concentration of high-density lipoprotein cholesterol (HDL-C), usually measured in the fasting state, is an excellent marker of atherosclerosis risk, its direct causal role in atherogenesis has lately been called into question. Strong evidence refuting a causal protective role for HDL has come from studies of rare genetic variants that affect plasma HDL-C concentrations. ...
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Recent findings suggest that rare variants play an important role in both monogenic and common diseases. Due to their rarity, however, it remains unclear how to appropriately analyze the association between such variants and disease. A common approach entails combining rare variants together based on a priori information and analyzing them as a single group. Here one must make some assumptions ...
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Citation: Zhang Q (2015) Associating rare genetic variants with human diseases. Genome researches have revealed that a large portion (over 50%) of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency (usually defined as less than 1%) in populations. In recent years, advances of DNA genotyping and sequencing technologies have been facilitating the dis...
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MOTIVATION High-throughput sequencing technologies have impacted many areas of genetic research. One such area is the identification of relatives from genetic data. The standard approach for the identification of genetic relatives collects the genomic data of all individuals and stores it in a database. Then, each pair of individuals is compared to detect the set of genetic relatives, and the m...
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Article history: Received 7 April 2016 Accepted 7 April 2016 Available online 12 April 2016 modify the presentation of schizophrenia (i.e. modifier genes). The correct model may depend on the gene or variant in question and will require additional investigation. The main innovation of this study lies in its connection of rare sequence-derived variants to an impressive array of clinical features...
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ژورنال
عنوان ژورنال: Nature Methods
سال: 2009
ISSN: 1548-7091,1548-7105
DOI: 10.1038/nmeth0609-406