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

Concepedia

Publication | Open Access

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

DOI Full Paper Access

17

Citations

26

References

2020

Year

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

Abstract

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

References

	Year	Citations
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
Fast and accurate short read alignment with Burrows–Wheeler transform Heng Li, Richard Durbin Bioinformatics	2009	60.7K
STAR: ultrafast universal RNA-seq aligner Alexander Dobin, Carrie Davis, Felix Schlesinger, Bioinformatics	2012	53.2K
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data Aaron McKenna, Matthew G. Hanna, Eric Banks, Genome Research	2010	28.9K
MultiQC: summarize analysis results for multiple tools and samples in a single report Philip Ewels, Måns Magnusson, Sverker Lundin, Bioinformatics	2016	9.5K
Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt Steffen Durinck, Paul T. Spellman, Ewan Birney, Nature Protocols Functional GenomicsEngineeringMolecular EcologyR/bioconductor Package BiomartOmics Datasets	2009	4.4K
Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals G Yeo, Christopher B. Burge Journal of Computational Biology	2004	2.1K
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs Xiaoming Liu, Chunlei Wu, Chang Li, Human Mutation EngineeringGeneticsMolecular BiologyGenomicsGenetic Medicine	2015	1K
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle Human Mutation Exome SequencingGeneticsHuman PolymorphismGenomicsLightweight Database	2011	846
Love MI, Huber W, Anders S.. Moderated estimation of fold change and dispersion for RNA-Seq data with DESeq2. Genome Biol 15: 550 Michael I. Love, Wolfgang Huber, Simon Anders Fold ChangeNatural SciencesGeneticsComputational GenomicsSequence Analysis	2014	720

Page 1