Results 31 to 40 of about 73,831 (171)

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta Dermato-Venereologica, 2018
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman   +11 more
doaj   +1 more source

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

Acta Medica Lituanica, 2016
Background. Intellectual disability affects about 1–2% of the general population worldwide, and this is the leading socio-economic problem of health care.
Eglė Preikšaitienė, Laima Ambrozaitytė, Živilė Maldžienė, Aušra Morkūnienė, Loreta Cimbalistienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas   +7 more
doaj   +1 more source

Hypoglycaemia Metabolic Gene Panel Testing

Frontiers in Endocrinology, 2022
A large number of inborn errors of metabolism present with hypoglycemia. Impairment of glucose homeostasis may arise from different biochemical pathways involving insulin secretion, fatty acid oxidation, ketone bodies formation and degradation, glycogen ...
Arianna Maiorana, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici   +3 more
doaj   +1 more source

Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

World Journal of Neurology, 2013
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing ...
openaire   +1 more source

Whole exome sequencing of a patient with metastatic hidradenocarcinoma and review of the literature

Rare Tumors, 2015
Hidradenocarcinoma is a rare malignancy of the sweat glands with only a few cases reported in literature. The management of these tumors is based on the extent of disease with local disease managed with surgical resection.
Eva Gupta, Kimberly J. Guthrie, Murli Krishna, Yan Asmann, Alexander S. Parker, Richard W. Joseph   +5 more
doaj   +1 more source

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Nature Communications, 2021
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal.
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta   +15 more
doaj   +1 more source

Comparison of whole genome amplification techniques for human single cell exome sequencing. [PDF]

PLoS ONE, 2017
BACKGROUND:Whole genome amplification (WGA) is currently a prerequisite for single cell whole genome or exome sequencing. Depending on the method used the rate of artifact formation, allelic dropout and sequence coverage over the genome may differ ...
Erik Borgström, Marta Paterlini, Jeff E Mold, Jonas Frisen, Joakim Lundeberg   +4 more
doaj   +1 more source

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Annals of Clinical and Translational Neurology, 2020
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample.
Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol   +10 more
doaj   +1 more source

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

Molecular Genetics & Genomic Medicine, 2023
Background As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases.
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch   +10 more
doaj   +1 more source