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Bio
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).
Research Interests
Papers共 71 篇Author StatisticsCo-AuthorSimilar Experts
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Isabella Lin,Angela Wei, Tsumugi A. Gebo, Paul C. Boutros,Maeve Flanagan,Nicole Kucine,Christopher Cunniff,Valerie A. Arboleda,Vivian Y. Chang
Haematologicano. 1 (2024)
Science translational medicineno. 745 (2024): eade4510-eade4510
Angela Wei,Richard Border,Boyang Fu,Sinead Cullina,Nadav Brandes, Seon-Kyeong Jang,Sriram Sankararaman,Eimear Kenny, Mariam S Udler,Vasilis Ntranos,Noah Zaitlen,Valerie Arboleda
medRxiv : the preprint server for health sciences (2024)
Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig, Abigail Dickinson,Zain Awamleh,Rosanna Weksberg,Isabella Lin,Valerie Arboleda,Wen-Hann Tan
Genetics in Medicine Open (2024): 101089
Aileen A Nava, Conner T Jops,Celine K. Vuong, Samantha Niles-Jensen,Leroy Bondhus,Choon Kiat Ong,Luis de la Torre-Ubieta,Michael J. Gandal,Valerie A. Arboleda
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Human geneticsno. 4 (2023): 475-495
Cellsno. 11 (2023): 1455-1455
JCI insightno. 10 (2023)
Laila M Sathe, Nishrat N Khan, Jazmine M Williams,Rosita Saul, Kane Jajieh, Maryam R Sartippour, Rachel Young,Joanna Xie,Dawn M Marquette, Tiffany Duncan,Eleazar Eskin,Valerie A Arboleda
Laboratory medicineno. 5 (2023): 512-518
Nature medicineno. 7 (2023): 1845-1856
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