A5017597589- Congenital heart defects research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Tracheal and airway disorders
- DNA Repair Mechanisms
- Microtubule and mitosis dynamics
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
Icahn School of Medicine at Mount Sinai
2018-2020
Child Health and Development Institute
2017-2020
Sema4 (United States)
2019
University of Washington
2018
Washington Center
2018
Rutgers, The State University of New Jersey
2016
De novo genic and copy number variants are enriched in patients with congenital heart disease, particularly those extra-cardiac anomalies. The impact of de damaging on outcomes following cardiac repair is unknown.
Abstract Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has been determined. Methods We developed a new computational method, EM-mosaic (Expectation-Maximization-based detection mosaicism), analyze exome sequences derived primarily from DNA 2530 CHD proband-parent trios. To optimize this we...
Non-coding rare variants (RVs) may contribute to Mendelian disorders but have been challenging study due small sample sizes, genetic heterogeneity and uncertainty about relevant non-coding features. Previous studies identified RVs associated with expression outliers, varying outlier definitions were employed no comprehensive open-source software was developed.We developed Outlier-RV Enrichment (ORE) identify biologically-meaningful RVs. We implemented ORE combining whole-genome sequencing...
Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and genome sequencing (WGS) data. Current such as XHMM for WES CNVnator WGS CNVs based on changes in read depth. For WGS, other methods include utilizing discordant pairs split reads genome-wide local assembly with Lumpy SvABA, respectively. Here, we introduce a new method deletion trio data the clustering of Mendelian errors (MEs). Using our Error Method (MEM), identified 127 deletions...
Abstract Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has been determined. Results We developed a computational method, Expectation-Maximization-based detection Mosaicism (EM-mosaic), analyze exome sequences 2530 CHD proband-parent trios. EM-mosaic detected 326 mosaic and/or cardiac DNA. Of 309...
Abstract Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and genome sequencing (WGS) data. Current such as XHMM for WES CNVnator WGS CNVs based on changes in read depth. For WGS, other methods include utilizing discordant pairs split reads genome-wide local assembly with Lumpy SvABA, respectively. Here, we introduce a new method deletion trio data the clustering of Mendelian errors (MEs). Using our Error Method (MEM), identified 127 deletions...