A5103060361- Cancer Genomics and Diagnostics
- Microtubule and mitosis dynamics
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Chemotherapy-induced cardiotoxicity and mitigation
- Eosinophilic Esophagitis
- Ion channel regulation and function
- Helicobacter pylori-related gastroenterology studies
- Synthesis of Tetrazole Derivatives
- Gene expression and cancer classification
- Cardiac electrophysiology and arrhythmias
- Chronic Myeloid Leukemia Treatments
- Viral Infections and Immunology Research
- Gastrointestinal disorders and treatments
Institute for Systems Biology
2021-2024
New York University
2021-2022
Indiana University School of Medicine
2022
University of Virginia
2021
Significance Approximately 400 United States children 1 y of age and older die suddenly from unexplained causes annually. We studied whole-exome sequence data 124 “trios” (decedent child living parents) to identify genetic risk factors. Nonsynonymous mutations, mostly de novo (present in but absent both biological parents), were highly enriched genes associated with cardiac seizure disorders relative controls, contributed 9% deaths. found significant overtransmission loss-of-function or...
How cells control gene expression is a fundamental question. The relative contribution of protein-level and RNA-level regulation to this process remains unclear. Here, we perform proteogenomic analysis tumors untransformed containing somatic copy number alterations (SCNAs). By revealing how regulate RNA protein abundances genes with SCNAs, provide insights into the rules regulation. Protein complex have strong while non-complex Notable exceptions are plasma membrane genes, which show weak...
Genetic variation within intron 3 of the CACNA1C calcium channel gene is associated with schizophrenia and bipolar disorder, but analysis causal variants their effect complicated by a nearby variable-number tandem repeat (VNTR). Here, we used 155 long-read genome assemblies from 78 diverse individuals to delineate structure population variability VNTR. We categorized VNTR sequences into 7 Types structural alleles using sequence differences among units. Only 12 units at 5′ end were shared...
Abstract How cells control gene expression is a fundamental question. The relative contribution of protein-level and transcript-level regulation to this process remains unclear. Here we perform proteogenomic analysis tumors untransformed containing somatic copy number alterations (SCNAs). By revealing how regulate transcript protein abundances SCNA-containing genes, provide insights into the rules regulation. While compensation mainly occurs at level across tumor types, genes gained or lost...