Author
Harvard University
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Felix Richter, Sarah U. Morton, Hongjian Qi…·Yufeng Shen
The paper develops a framework for de novo variant identification using FreeBayes and a neural network, achieving high accuracy in SNVs and indels through validation with Sanger sequencing.
Jacob L. Taylor, Jean-Christophe Debost, Sarah U. Morton…·Elise Robinson
The paper estimates the risk of five disorders from paternal-age-related de novo mutations using whole-exome-sequencing data and Danish registry data.
Kathryn B. Manheimer, Nihir Patel, Felix Richter…·Andrew J. Sharp
The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.