Results 51 to 60 of about 122,453 (313)

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

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement [PDF]

, 2013
Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families.
Bradfield, J., Cardinale, C., Golhar, R., Guo, Y. F., Hakonarson, H., Hou, C. P., Kim, C., Lyon, G. J., Otieno, F. G., Thomas, K., Toskala, E., Wang, K.   +11 more
core   +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

Empowering precision medicine through high performance computing clusters [PDF]

, 2018
The role of High Performance Computing (HPC) in Medicine is greatly increase in these last years, moving from basic research to the clinics. With the advent of Next Generation Sequencing (NGS) technologies, diverse areas of human health have been ...
Castrignanò Tiziana, Chillemi Giovanni, Parisi Valerio   +2 more
core   +3 more sources

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

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +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

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS, Kalatskaya, Irina, McPherson, John D, Spears, Melanie, Stein, Lincoln, Trinh, Quang M   +5 more
core   +1 more source