High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

In recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical developm...

Full description

Bibliographic Details
Main Authors:	V. Yu. Voinova, E. A. Nikolaeva, N. V. Shсherbakova, M. I. Yuablonskaya
Format:	Article
Language:	Russian
Published:	Ltd. “The National Academy of Pediatric Science and Innovation” 2019-03-01
Series:	Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:	children hereditary diseases full-excinal sequencing new generation sequencing interpretation of sequencing data primary diagnosis possible diagnosis double diagnosis prognostic secondary variant
Online Access:	https://www.ped-perinatology.ru/jour/article/view/829

Similar Items

Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases
by: Jiahui Zhang, et al.
Published: (2021-09-01)

Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
by: Andreas Krämer, et al.
Published: (2017-08-01)

High-performance sequencing in the diagnosis of monogenic diseases: Possibilities and limitations
by: L. I. Shagam, et al.
Published: (2016-04-01)

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population
by: Anna Morgan, et al.
Published: (2020-10-01)

Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience
by: C. Alexander Valencia, et al.
Published: (2015-08-01)

Marching toward 100% whole genome sequencing
by: Yih-Horng eShiao
Published: (2016-03-01)

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature
by: Zahra Beyzaei, et al.
Published: (2020-10-01)

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
by: Hui Tang, et al.
Published: (2021-03-01)

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
by: Kwong Wai Choy, et al.
Published: (2019-08-01)

Novel SARS-CoV-2 Variants in Italy: The Role of Veterinary Public Health Institutes
by: Alessio Lorusso, et al.
Published: (2021-03-01)

Shotgun sequencing to determine corneal infection
by: Mohit Parekh, et al.
Published: (2020-09-01)

Exome Sequencing in Fetuses with Structural Malformations
by: Fiona L. Mackie, et al.
Published: (2014-07-01)

A Case of Trap Sequence with Immense Acardiac Twin
by: Amaliev Georgi I., et al.
Published: (2014-08-01)

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia
by: Kayo Shimizu, et al.
Published: (2015-07-01)

Next Generation Sequencing Technology in Lung Cancer Diagnosis
by: Calin Cainap, et al.
Published: (2021-09-01)

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease
by: María José de Castro, et al.
Published: (2020-07-01)

Circulating exosomal mRNA profiling identifies novel signatures for the detection of prostate cancer
by: Jin Ji, et al.
Published: (2021-03-01)

Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes
by: Hongwei Shen, et al.
Published: (2019-05-01)

DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING
by: A. I. Yershova, et al.
Published: (2015-09-01)

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
by: Barreta, A., et al.
Published: (2022)

Whole‐Exome Sequencing of Germline Variants in Non‐BRCA Families with Hereditary Breast Cancer
by: Bajalica‐lagercrantz, S., et al.
Published: (2022)

Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract
by: Ming-Fu Ma, et al.
Published: (2016-05-01)

Clinical study on the diagnosis of porcine streptococcal meningitis with negative blood and cerebrospinal fluid culture by next-generation sequencing
by: Eryi Zhao, et al.
Published: (2021-08-01)

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
by: Lara Pemberton, et al.
Published: (2020-01-01)

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
by: Iria Roca, et al.
Published: (2018-05-01)

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
by: Amal Souissi, et al.
Published: (2021-07-01)

Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis
by: Matthew Hoi Kin Chau, et al.
Published: (2021-09-01)

Fault isolability with different forms of the faults–symptoms relation
by: Kóscielny Jan Maciej, et al.
Published: (2016-12-01)

Nanopore Technology and Its Applications in Gene Sequencing
by: Bo Lin, et al.
Published: (2021-06-01)

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy
by: Tiejia Jiang, et al.
Published: (2021-08-01)

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
by: Mullin Ho Chung Yu, et al.
Published: (2021-01-01)

Rapid sequencing‐based diagnosis of infectious bacterial species from meningitis patients in Zambia
by: So Nakagawa, et al.
Published: (2019-01-01)

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
by: Anna Morgan, et al.
Published: (2018-12-01)

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA
by: James Jiqi Wang, et al.
Published: (2019-05-01)

Solidity and some double sequence spaces
by: P.Thirunavakarasu, et al.
Published: (2012-01-01)

AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting
by: Christian Wünsch, et al.
Published: (2020-02-01)

Identification of potential blood biomarkers for early diagnosis of Alzheimer’s disease through RNA sequencing analysis
by: Daichi Shigemizu, et al.
Published: (2020-07-01)

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
by: Likun Wang, et al.
Published: (2018-07-01)

Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing
by: Adekunle Adekile, et al.
Published: (2021-05-01)

Production of full-length cDNA sequences by sequencing and analysis of expressed sequence tags from Schistosoma mansoni
by: Alessandra C Faria-Campos, et al.
Published: (2006-10-01)