Felix Richter

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.

The paper compares RNAseq methods for analyzing medium spiny neurons in the nucleus accumbens, finding that nuclear-FACS-seq identifies more differentially expressed genes and GWAS hits than other methods.

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.