Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis
Gastroschisis is one of the most prevalent human birth defects concerning the ventral body wall development. Recent research has given a better understanding of gastroschisis pathogenesis through the identification of multiple novel pathogenetic pathways implicated in ventral body wall closure. Deci...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-07-01
|
Series: | Data |
Subjects: | |
Online Access: | https://www.mdpi.com/2306-5729/4/3/97 |
id |
doaj-d0a803a393b44ccb92faf55cc1d2154d |
---|---|
record_format |
Article |
spelling |
doaj-d0a803a393b44ccb92faf55cc1d2154d2020-11-25T00:37:03ZengMDPI AGData2306-57292019-07-01439710.3390/data4030097data4030097Database for Gene Variants and Metabolic Networks Implicated in Familial GastroschisisVíctor M. Salinas-Torres0Hugo L. Gallardo-Blanco1Rafael A. Salinas-Torres2Laura E. Martínez de Villarreal3Department of Genetics, School of Medicine and University Hospital “Dr. José Eleuterio González”, Universidad Autónoma de Nuevo León, Ave. Madero y Gonzalitos S/N Col. Mitras Centro, Monterrey CP 64460, Nuevo León, MexicoDepartment of Genetics, School of Medicine and University Hospital “Dr. José Eleuterio González”, Universidad Autónoma de Nuevo León, Ave. Madero y Gonzalitos S/N Col. Mitras Centro, Monterrey CP 64460, Nuevo León, MexicoDepartment of Systems and Computing, Instituto Tecnológico de Tijuana, Calzada del Tecnológico S/N Fracc. Tomas Aquino, Tijuana CP 22414, Baja California, MexicoDepartment of Genetics, School of Medicine and University Hospital “Dr. José Eleuterio González”, Universidad Autónoma de Nuevo León, Ave. Madero y Gonzalitos S/N Col. Mitras Centro, Monterrey CP 64460, Nuevo León, MexicoGastroschisis is one of the most prevalent human birth defects concerning the ventral body wall development. Recent research has given a better understanding of gastroschisis pathogenesis through the identification of multiple novel pathogenetic pathways implicated in ventral body wall closure. Deciphering the underlying genetic factors segregating among familial gastroschisis allows better detection of novel susceptibility variants than the screening of pooled unrelated cases and controls, whereas bioinformatic-aided analysis can help to address new insights into human biology and molecular mechanisms involved in gastroschisis. Technological advances in DNA sequencing (Next Generation Sequencing), computing power, and machine learning techniques provide opportunities to the scientific communities to assess significant gaps in research and clinical practice. Thus, in an effort to study the role of gene variation in gastroschisis, we employed whole exome sequencing in a Mexican family with recurrence for gastroschisis. Stringent bioinformatic analyses were implemented to identify and predict pathogenetic networks comprised of potential gastroschisis predispositions. This is the first database for gene variants and metabolic networks implicated in familial gastroschisis. The dataset provides information on gastroschisis annotated genes, gene variants, and metabolic networks and constitutes a useful source to enhance further investigations in gastroschisis.https://www.mdpi.com/2306-5729/4/3/97allelesbioinformaticsgastroschisisgenesgeneticsrecurrencewhole exome sequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Víctor M. Salinas-Torres Hugo L. Gallardo-Blanco Rafael A. Salinas-Torres Laura E. Martínez de Villarreal |
spellingShingle |
Víctor M. Salinas-Torres Hugo L. Gallardo-Blanco Rafael A. Salinas-Torres Laura E. Martínez de Villarreal Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis Data alleles bioinformatics gastroschisis genes genetics recurrence whole exome sequencing |
author_facet |
Víctor M. Salinas-Torres Hugo L. Gallardo-Blanco Rafael A. Salinas-Torres Laura E. Martínez de Villarreal |
author_sort |
Víctor M. Salinas-Torres |
title |
Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis |
title_short |
Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis |
title_full |
Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis |
title_fullStr |
Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis |
title_full_unstemmed |
Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis |
title_sort |
database for gene variants and metabolic networks implicated in familial gastroschisis |
publisher |
MDPI AG |
series |
Data |
issn |
2306-5729 |
publishDate |
2019-07-01 |
description |
Gastroschisis is one of the most prevalent human birth defects concerning the ventral body wall development. Recent research has given a better understanding of gastroschisis pathogenesis through the identification of multiple novel pathogenetic pathways implicated in ventral body wall closure. Deciphering the underlying genetic factors segregating among familial gastroschisis allows better detection of novel susceptibility variants than the screening of pooled unrelated cases and controls, whereas bioinformatic-aided analysis can help to address new insights into human biology and molecular mechanisms involved in gastroschisis. Technological advances in DNA sequencing (Next Generation Sequencing), computing power, and machine learning techniques provide opportunities to the scientific communities to assess significant gaps in research and clinical practice. Thus, in an effort to study the role of gene variation in gastroschisis, we employed whole exome sequencing in a Mexican family with recurrence for gastroschisis. Stringent bioinformatic analyses were implemented to identify and predict pathogenetic networks comprised of potential gastroschisis predispositions. This is the first database for gene variants and metabolic networks implicated in familial gastroschisis. The dataset provides information on gastroschisis annotated genes, gene variants, and metabolic networks and constitutes a useful source to enhance further investigations in gastroschisis. |
topic |
alleles bioinformatics gastroschisis genes genetics recurrence whole exome sequencing |
url |
https://www.mdpi.com/2306-5729/4/3/97 |
work_keys_str_mv |
AT victormsalinastorres databaseforgenevariantsandmetabolicnetworksimplicatedinfamilialgastroschisis AT hugolgallardoblanco databaseforgenevariantsandmetabolicnetworksimplicatedinfamilialgastroschisis AT rafaelasalinastorres databaseforgenevariantsandmetabolicnetworksimplicatedinfamilialgastroschisis AT lauraemartinezdevillarreal databaseforgenevariantsandmetabolicnetworksimplicatedinfamilialgastroschisis |
_version_ |
1725302831311749120 |