Concepedia

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, Amit Kawalia, Maria‐Theodora Melissari, Tikam Chand Dakal, Athira M. Menon, Julia Höfele, Korbinian M. Riedhammer, Lea Waffenschmidt, Júlia Fabian,

PLoS ONE · 2020 · 17 citations · 26 references

DOIFull text

Open access

Abstract

Our study suggests that rare mutational de novo events in genes involved in foregut development contribute to the development of EA/TEF.

References

26

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love, Wolfgang Huber, Simon Anders · Genome biology · 2014 · 94.7K citations · Full text

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 53.2K citations · Full text

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 28.9K citations · Full text

MultiQC: summarize analysis results for multiple tools and samples in a single report

Philip Ewels, Måns Magnusson, Sverker Lundin et al. · Bioinformatics · 2016 · 9.5K citations · Full text