Title : Evaluating the genetic diagnostic power of exome sequencing : Identifying missing data . Running title : Identifying missing data in exome sequencing
نویسنده
چکیده
Short Report Title: Evaluating the genetic diagnostic power of exome sequencing: Identifying missing data. Running title: Identifying missing data in exome sequencing Authors: Pascual Lorente-Arencibia BEng, Deyán Guacarán BEng, Antonio Tugores PhD Affiliation: Unidad de Investigación, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain. Corresponding author: Antonio Tugores Unidad de Investigación Complejo Hospitalario Universitario Insular Materno Infantil Avda Maritima del Sur, s/n. 35016 Las Palmas de Gran Canaria, SPAIN; Tel: +34 928 441 531 FAX: +34 928 441 535 email: [email protected]
منابع مشابه
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
متن کاملEditorial: The Post-Exome Era
The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...
متن کاملIdentification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
متن کاملGene-based multiple trait analysis for exome sequencing data
The common genetic variants identified through genome-wide association studies explain only a small proportion of the genetic risk for complex diseases. The advancement of next-generation sequencing technologies has enabled the detection of rare variants that are expected to contribute significantly to the missing heritability. Some genetic association studies provide multiple correlated traits...
متن کاملWhole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...
متن کامل