Nihir Patel

Goliath clades and in vivo tracking of clonal dynamics show three phases of UV-induced skin carcinogenesis

This study identifies three phases of UV-induced skin carcinogenesis using a mouse model, showing the emergence of large clades, clonal selection, and lesion formation.

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

The paper surveys rare epigenetic variation in 23,116 human genomes, identifies disease-relevant epivariations, and discovers novel CGG expansions linked to folate-sensitive fragile sites.

Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches

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.

Identification of rare de novo epigenetic variations in congenital disorders

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

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.