Searching journal content for articles similar to Pounraja and Girirajan 32 (5): 904.

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  1. Method: The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects
    • Maureen Pittman,
    • Kihyun Lee,
    • Franco Felix,
    • Yu Huang,
    • Adrienne Lam,
    • Mauro W. Costa,
    • Deepak Srivastava,
    • and Katherine S. Pollard
    Genome Res. February 2026 36: 330-347; Published in Advance December 12, 2025, doi:10.1101/gr.281141.125
    ...variants are transmitted with higher-than-expected frequency to CHD probands but rarely or never appear in combination in their unaffected parents. Stratifying by specific phenotypes and considering gene combinations of higher orders yields an additional 6026 gene sets. Genes found in oligogenic sets...
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  2. Method: A machine-learning approach for accurate detection of copy number variants from exome sequencing
    • Vijay Kumar Pounraja,
    • Gopal Jayakar,
    • Matthew Jensen,
    • Neil Kelkar,
    • and Santhosh Girirajan
    Genome Res. July 2019 29: 1134-1143; Published in Advance June 6, 2019, doi:10.1101/gr.245928.118
    ...Corresponding author: sxg47@psu.eduAbstractCopy number variants (CNVs) are a major cause of several genetic disorders, making their detection an essential component of genetic analysis pipelines. Current methods for detecting CNVs from exome-sequencing data are limited by high false-positive rates and low...
  3. Methods: Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network
    • Ivan Iossifov,
    • Tian Zheng,
    • Miron Baron,
    • T. Conrad Gilliam,
    • and Andrey Rzhetsky
    Genome Res. July 2008 18: 1150-1162; Published in Advance April 16, 2008, doi:10.1101/gr.075622.107
    ...framework that combines the standard genetic linkage formalism with whole-genome molecular-interaction data to predict pathways or networks of interacting genes that contribute to common heritable disorders. We apply the model to three large genotype–phenotype data sets, identify a small number...
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  4. Research: Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection
    • Jian-Hai Chen,
    • Patrick Landback,
    • Deanna Arsala,
    • Alexander Guzzetta,
    • Shengqian Xia,
    • Jared Atlas,
    • Dylan Sosa,
    • Yong E. Zhang,
    • Jingqiu Cheng,
    • Bairong Shen,
    • and Manyuan Long
    Genome Res. March 2025 35: 379-392; Published in Advance February 14, 2025, doi:10.1101/gr.279498.124
    ...young ones (Domazet-Lošo and Tautz 2008). However, the underlying mechanism remains unclear. In recent years, medical studies have identified deleterious variants causing rare disorders, “orphan” diseases, and rare forms of common diseases (Richards et al. 2015). Rare diseases are often caused by rare...
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  5. Review: Contrasting genetic architectures in different mouse reference populations used for studying complex traits
    • David A. Buchner and
    • Joseph H. Nadeau
    Genome Res. June 2015 25: 775-791; Published in Advance May 7, 2015, doi:10.1101/gr.187450.114
    ...-gene disorders and in certain instances have led to new treatments, including those for hemophilia and leukemia (Ginsburg 2011). However, identifying the underlying genetic variants for polygenic conditions, which are the predominant source of phenotypic variation and disease, has not kept pace...
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