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Research Interests
Our research lab is broadly interested in leveraging genomic tools to understanding how both rare and common human genetic variation cause human disease. As the sequencing technology as matured, one of the major challenge in genomics is interpretation of the majority of the DNA base pairs that are sequenced within an individual. Interpreting how the DNA code influences human disease and is an important next step in integration of research findings into the clinical setting. The lab leverages a bidirectional approach. First, we are interested in rare genetic syndromes caused by genetic changes in genes that function to organize DNA through chromatin modification. The lab leverages functional genomic approaches (RNA-seq, ChIP-seq, methylation-seq) to 1) understand how rare deleterious mutations in chromatin modifiers affect downstream pathways and human development in a cellular model system, 2) identify modifiers of disease severity and 3) prioritize putative drug targets. Second, we are also interested in the shared genetic basis of monogenic and complex diseases. We are using existing large scale GWAS data sets to better identify and interpret findings by leveraging the extremes of the phenotypic spectrum (monogenic/Mendelian disease).
Our research lab is broadly interested in leveraging genomic tools to understanding how both rare and common human genetic variation cause human disease. As the sequencing technology as matured, one of the major challenge in genomics is interpretation of the majority of the DNA base pairs that are sequenced within an individual. Interpreting how the DNA code influences human disease and is an important next step in integration of research findings into the clinical setting. The lab leverages a bidirectional approach. First, we are interested in rare genetic syndromes caused by genetic changes in genes that function to organize DNA through chromatin modification. The lab leverages functional genomic approaches (RNA-seq, ChIP-seq, methylation-seq) to 1) understand how rare deleterious mutations in chromatin modifiers affect downstream pathways and human development in a cellular model system, 2) identify modifiers of disease severity and 3) prioritize putative drug targets. Second, we are also interested in the shared genetic basis of monogenic and complex diseases. We are using existing large scale GWAS data sets to better identify and interpret findings by leveraging the extremes of the phenotypic spectrum (monogenic/Mendelian disease).
研究兴趣
论文共 16 篇作者统计合作学者相似作者
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Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan,Miguel Almalvez,Eva E. Segura,Ascia Eskin,Matthew S. Bramble,Valerie A. Arboleda,Ruth Baxter,Stanley F. Nelson,Emmanuèle C. Délot,Vincent Harley,
Genetic Diagnosis of Endocrine Disorderspp.259-278, (2016)
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