Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis

Salinas Torres, Víctor Michael y Gallardo Blanco, Hugo L. y Salinas Torres, Rafael A. y Martinez de Villarreal, Laura E. (2019) Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis. Data, 4 (3). p. 97. ISSN 2306-5729

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URL o página oficial: https://www.mdpi.com/2306-5729/4/3/97

Resumen

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.

Tipo de elemento:

Article

Palabras claves no controlados:

Gastroschisis, Genetic Variation, Metabolic Networks and Pathways, Exome Sequencing, Computational Biology, Databases, Genetic, Abdominal Wall

Materias:

CONACYT > Biología y Química
CONACYT > Medicina y Ciencias de la Salud

Divisiones:

Medicina > Maestría en Ciencias con Orientación en Biología Molecular e Ingeniería Genética

Usuario depositante:

Dr.C. Hugo Gallardo Blanco

Creadores:

Creador	Email	ORCID
Salinas Torres, Víctor Michael	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo L.	hugo.gallardobl@uanl.edu.mx	orcid.org/0000-0002-7816-4967
Salinas Torres, Rafael A.	NO ESPECIFICADO	NO ESPECIFICADO
Martinez de Villarreal, Laura E.	NO ESPECIFICADO	NO ESPECIFICADO