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Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis

Department 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, Mexico
Department of Systems and Computing, Instituto Tecnológico de Tijuana, Calzada del Tecnológico S/N Fracc. Tomas Aquino, Tijuana CP 22414, Baja California, Mexico
Authors to whom correspondence should be addressed.
Received: 22 May 2019 / Revised: 7 July 2019 / Accepted: 9 July 2019 / Published: 11 July 2019
(This article belongs to the Special Issue Benchmarking Datasets in Bioinformatics)
PDF [720 KB, uploaded 11 July 2019]


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. View Full-Text
Keywords: alleles; bioinformatics; gastroschisis; genes; genetics; recurrence; whole exome sequencing alleles; bioinformatics; gastroschisis; genes; genetics; recurrence; whole exome sequencing

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Salinas-Torres, V.M.; Gallardo-Blanco, H.L.; Salinas-Torres, R.A.; Martínez de Villarreal, L.E. Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis. Data 2019, 4, 97.

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