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zadetkov: 331
1.
  • Genetic linkage analysis in... Genetic linkage analysis in the age of whole-genome sequencing
    Ott, Jurg; Wang, Jing; Leal, Suzanne M Nature reviews. Genetics, 05/2015, Letnik: 16, Številka: 5
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    For many years, linkage analysis was the primary tool used for the genetic mapping of Mendelian and complex traits with familial aggregation. Linkage analysis was largely supplanted by the wide ...
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2.
  • A novel adaptive method for... A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions
    Liu, Dajiang J; Leal, Suzanne M PLOS genetics, 10/2010, Letnik: 6, Številka: 10
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    There is solid evidence that rare variants contribute to complex disease etiology. Next-generation sequencing technologies make it possible to uncover rare variants within candidate genes, exomes, ...
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3.
  • Methods for Detecting Assoc... Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data
    Li, Bingshan; Leal, Suzanne M. American journal of human genetics 83, Številka: 3
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    Although whole-genome association studies using tagSNPs are a powerful approach for detecting common variants, they are underpowered for detecting associations with rare variants. Recent studies have ...
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4.
  • Excess of rare, inherited t... Excess of rare, inherited truncating mutations in autism
    Krumm, Niklas; Turner, Tychele N; Baker, Carl ... Nature genetics, 06/2015, Letnik: 47, Številka: 6
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    To assess the relative impact of inherited and de novo variants on autism risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 ...
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5.
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6.
  • Variant Association Tools f... Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data
    Wang, Gao T.; Peng, Bo; Leal, Suzanne M. American journal of human genetics, 05/2014, Letnik: 94, Številka: 5
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    Currently there is great interest in detecting associations between complex traits and rare variants. In this report, we describe Variant Association Tools (VAT) and the VAT pipeline, which ...
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7.
  • Missing heritability and st... Missing heritability and strategies for finding the underlying causes of complex disease
    Eichler, Evan E; Flint, Jonathan; Gibson, Greg ... Nature reviews. Genetics, 201006, 2010-06-00, 2010-6-00, 20100601, Letnik: 11, Številka: 6
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    Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the ...
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8.
  • Analysis of 6,515 exomes re... Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    Fu, Wenqing; O'Connor, Timothy D; Jun, Goo ... Nature, 01/2013, Letnik: 493, Številka: 7431
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    Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history and will help to facilitate the development of new ...
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9.
  • Recurrent Gain-of-Function ... Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
    Guo, Dong-chuan; Regalado, Ellen; Casteel, Darren E. ... American journal of human genetics, 08/2013, Letnik: 93, Številka: 2
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    Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected ...
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10.
  • Evolution and Functional Im... Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
    Tennessen, Jacob A.; Bigham, Abigail W.; O'Connor, Timothy D. ... Science, 07/2012, Letnik: 337, Številka: 6090
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    As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding genes to an average median depth of 111 x in 2440 individuals ...
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zadetkov: 331

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