Results 31 to 40 of about 75,829 (126)

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

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

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

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

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

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

Evaluation of HLA typing content of next-generation sequencing datasets from family trios and individuals of arab ethnicity

Frontiers in Genetics
Introduction: HLA typing is a critical tool in both clinical and research applications at the individual and population levels. Benchmarking studies have indicated HLA-HD as the preferred tool for accurate and comprehensive HLA allele calling. The advent
Mohammed Dashti, Md Zubbair Malik, Rasheeba Nizam, Sindhu Jacob, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +5 more
doaj   +1 more source

Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs

Canine Medicine and Genetics, 2020
Background Although, in general, cancer is considered a multifactorial disease, clustering of particular cancers in pedigrees suggests a genetic predisposition and could explain why some dog breeds appear to have an increased risk of certain cancers.
Anna L. W. Huskey, Katie Goebel, Carlos Lloveras-Fuentes, Isaac McNeely, Nancy D. Merner   +4 more
doaj   +1 more source