Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases

2013 ◽  
Vol 54 (3) ◽  
pp. 2186 ◽  
Author(s):  
Xuejuan Chen ◽  
Kanxing Zhao ◽  
Xunlun Sheng ◽  
Yang Li ◽  
Xiang Gao ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Targeted Sequencing ◽  
Retinal Diseases ◽  
Retinal Dystrophies ◽  
Hereditary Retinal Dystrophies

scholarly journals Telegenetics for inherited retinal diseases in the COVID-19 environment

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Ahmad Al-Moujahed ◽  
Aarushi Kumar ◽  
Teja Chemudupati ◽  
Stephen H. Tsang ◽  
Vinit B. Mahajan
Keyword(s):  
Genetic Testing ◽  
Diagnostic Tests ◽  
Family Counseling ◽  
Retinal Diseases ◽  
Clinical Testing ◽  
Medical Genetic ◽  
Retinal Dystrophies ◽  
Number Of Patients ◽  
Virtual Visits ◽  
Main Components

AbstractInherited retinal diseases (IRDs) are visually debilitating conditions that affect families worldwide. They require extensive clinical testing, examination, and patient and family counseling, which are frequently accomplished over single-day extended clinic visits. However, the COVID-19 pandemic has limited the number of patients and staff allowed in clinics, leading to interruptions in care. We therefore developed telehealth management protocols for complete or hybrid virtual visits. The three main components of our telegenetics approach included reviewing the diagnostic tests results remotely, in-person or virtual video visits with a retina specialist, and virtual genetic testing using saliva kits. During the first 5 months of the program, telegenetic care was provided for 80 patients, including 3 international patients, and a spectrum of retinal dystrophies were diagnosed and managed. In conclusion, telegenetic virtual visits ensure continuity of care while reducing patient and provider exposure to SARS-CoV-2 and may continue and expand into other medical genetic conditions long after the pandemic.

scholarly journals Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition

PLoS ONE ◽  
2019 ◽  
Vol 14 (8) ◽  
pp. e0211661 ◽  
Author(s):  
Dharambir K. Sanghera ◽  
Ruth Hopkins ◽  
Megan W. Malone-Perez ◽  
Cynthia Bejar ◽  
Chengcheng Tan ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Rare Variants ◽  
Fat Deposition ◽  
Targeted Sequencing ◽  
Ectopic Fat ◽  
Ectopic Fat Deposition

scholarly journals VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1979
Author(s):  
Francesco Musacchia ◽  
Marianthi Karali ◽  
Annalaura Torella ◽  
Steve Laurie ◽  
Valeria Policastro ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Targeted Sequencing ◽  
Sequencing Data ◽  
Scalable Algorithm ◽  
1000 Genomes ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Homozygous Deletions ◽  
Selection Of ◽  
Higher Sensitivity

Homozygous deletions (HDs) may be the cause of rare diseases and cancer, and their discovery in targeted sequencing is a challenging task. Different tools have been developed to disentangle HD discovery but a sensitive caller is still lacking. We present VarGenius-HZD, a sensitive and scalable algorithm that leverages breadth-of-coverage for the detection of rare homozygous and hemizygous single-exon deletions (HDs). To assess its effectiveness, we detected both real and synthetic rare HDs in fifty exomes from the 1000 Genomes Project obtaining higher sensitivity in comparison with state-of-the-art algorithms that each missed at least one event. We then applied our tool on targeted sequencing data from patients with Inherited Retinal Dystrophies and solved five cases that still lacked a genetic diagnosis. We provide VarGenius-HZD either stand-alone or integrated within our recently developed software, enabling the automated selection of samples using the internal database. Hence, it could be extremely useful for both diagnostic and research purposes.

scholarly journals Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

2019 ◽  
Vol 8 (12) ◽  
pp. 2078 ◽  
Author(s):  
Ong ◽  
Patel ◽  
Singh
Keyword(s):  
Optical Coherence Tomography ◽  
Optical Coherence Tomography Angiography ◽  
Imaging Modality ◽  
Retinal Disease ◽  
Macular Dystrophy ◽  
Retinal Diseases ◽  
Optical Coherence ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Powerful Research Tool

Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid. It is a powerful research tool to study the pathobiology of retinal diseases, including inherited retinal dystrophies. In this review, we provide an overview of the evolution of OCTA technology, compare the specifications of various OCTA devices, and summarize key findings from published OCTA studies in inherited retinal dystrophies including retinitis pigmentosa, Stargardt disease, Best vitelliform macular dystrophy, and choroideremia. OCTA imaging has provided new data on characteristics of these conditions and has contributed to a deeper understanding of inherited retinal disease.

scholarly journals Targeted Sequencing Reveals Large-Scale Sequence Polymorphism in Maize Candidate Genes for Biomass Production and Composition

PLoS ONE ◽  
2015 ◽  
Vol 10 (7) ◽  
pp. e0132120 ◽  
Author(s):  
Moses M. Muraya ◽  
Thomas Schmutzer ◽  
Chris Ulpinnis ◽  
Uwe Scholz ◽  
Thomas Altmann
Keyword(s):  
Candidate Genes ◽  
Biomass Production ◽  
Large Scale ◽  
Sequence Polymorphism ◽  
Targeted Sequencing ◽  
Scale Sequence

scholarly journals Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review

Eye ◽  
2016 ◽  
Vol 31 (2) ◽  
pp. 273-285 ◽  
Author(s):  
N Brito-García ◽  
T del Pino-Sedeño ◽  
M M Trujillo-Martín ◽  
R M Coco ◽  
E Rodríguez de la Rúa ◽  
...  
Keyword(s):  
Systematic Review ◽  
Nutritional Supplements ◽  
Retinal Dystrophies ◽  
Hereditary Retinal Dystrophies

Inner Retinal Function in Hereditary Retinal Dystrophies

1998 ◽  
Vol 162 (2-3) ◽  
pp. 169-177 ◽  
Author(s):  
K. Ruether ◽  
U. Kellner
Keyword(s):  
Retinal Function ◽  
Retinal Dystrophies ◽  
Hereditary Retinal Dystrophies

scholarly journals Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

2016 ◽  
Vol 4 (5) ◽  
pp. 568-580 ◽  
Author(s):  
Carolien G.F. de Kovel ◽  
Eva H. Brilstra ◽  
Marjan J.A. van Kempen ◽  
Ruben van‘t Slot ◽  
Isaac J. Nijman ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Epileptic Encephalopathy ◽  
Large Cohort ◽  
Targeted Sequencing
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