Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6140
Abstract: Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, concerns, and… read more here.
Keywords: sequencing service; exome; fetal exome; exome sequencing ... See more keywords
Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6147
Abstract: We investigated a custom congenital heart disease (CHD) geneset to assess the diagnostic value of whole‐exome sequencing (WES) in karyotype‐ and copy number variation (CNV)‐negative aborted fetuses with conotruncal defects (CTDs), and to explore the… read more here.
Keywords: yield whole; whole exome; diagnostic yield; exome data ... See more keywords
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
Sign Up to like & getrecommendations! Published in 2020 at "iScience"
DOI: 10.1016/j.isci.2020.101552
Abstract: Summary Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play a role in disease pathogenesis. However, no unbiased,… read more here.
Keywords: neuronal ion; ion transport; gaba signaling; exome ... See more keywords
A comprehensive strategy for exome-based preconception carrier screening
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.153
Abstract: Purpose:Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations.Methods:Our strategy was developed using WES data from eight… read more here.
Keywords: preconception carrier; carrier screening; nonconsanguineous couples; exome ... See more keywords
System analysis of the sequencing quality of human whole exome samples on BGI NGS platform
Sign Up to like & getrecommendations! Published in 2022 at "Scientific Reports"
DOI: 10.1038/s41598-021-04526-8
Abstract: Human exome sequencing is a classical method used in most medical genetic applications. The leaders in the field are the manufacturers of enrichment kits based on hybridization of cRNA or cDNA biotinylated probes specific for… read more here.
Keywords: analysis sequencing; system analysis; sequencing quality; exome ... See more keywords
Clinical Exome Studies Have Inconsistent Coverage.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical chemistry"
DOI: 10.1093/clinchem.2019.306795
Abstract: BACKGROUND Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has surveyed and compared the data… read more here.
Keywords: studies inconsistent; exome studies; exome; clinical exome ... See more keywords
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-251118
Abstract: Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this… read more here.
Keywords: whole exome; dysplasia; short rib; lethal skeletal ... See more keywords
The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Epilepsy Currents"
DOI: 10.1177/1535759719871593
Abstract: Diagnostic Exome Sequencing in 100 Consecutive Patients With Both Epilepsy and Intellectual Disability Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, et al. Epilepsia. 2019;60(1):155-164. doi:10.1111/epi.14618. Epub December 7, 2018. PMID: 30525188. Objective: Epilepsy is highly… read more here.
Keywords: epilepsy; diagnosis; cost; exome ... See more keywords
Lessons learned from additional research analyses of unsolved clinical exome cases
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DOI: 10.1186/s13073-017-0412-6
Abstract: BackgroundGiven the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery.MethodsWe designed and implemented protocols for the… read more here.
Keywords: research; family; disease; exome ... See more keywords
Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing
Sign Up to like & getrecommendations! Published in 2023 at "Open Life Sciences"
DOI: 10.1515/biol-2022-0593
Abstract: Abstract Pulmonary atresia (PA) is a severe cyanotic congenital heart disease. Although some genetic mutations have been described to be associated with PA, the knowledge of pathogenesis is insufficient. The aim of this research was… read more here.
Keywords: pulmonary atresia; whole exome; novel rare; rare genetic ... See more keywords
Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU.
Sign Up to like & getrecommendations! Published in 2022 at "NeoReviews"
DOI: 10.1542/neo.23-12-e829
Abstract: With recent advances in the technologies used for genetic diagnosis as well as our understanding of the genetic basis of disease, a growing list of options is available for providers when caring for a newborn… read more here.
Keywords: disorders neonate; genetic disorders; neonate role; exome sequencing ... See more keywords