Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10233
Abstract: Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to… read more here.
Keywords: dystrophy; limb girdle; clinical exome; girdle muscular ... See more keywords
The current landscape of clinical exome and genome reanalysis in the U.S.
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1968
Abstract: The majority of patients undergoing exome or genome sequencing receive a nondiagnostic result. Periodic reanalysis is known to increase diagnostic yield from exome sequencing, yet laboratory reanalysis practices are obscure. We sought to define the… read more here.
Keywords: exome genome; genome reanalysis; reanalysis; clinical exome ... See more keywords
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02178-8
Abstract: Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the… read more here.
Keywords: exome sequencing; developmental disorders; clinical exome; trio ... See more keywords
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103903
Abstract: Human imprinting disorders cause a range of dysmorphic and neurocognitive phenotypes, and they may elude traditional molecular diagnosis such exome sequencing. The discovery of novel disorders related to imprinted genes has lagged behind traditional Mendelian… read more here.
Keywords: exome sequencing; imprinted genes; clinical exome; conservation ... See more keywords
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00964-0
Abstract: Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during… read more here.
Keywords: exome sequencing; clinical exome; ufs identified; unsolicited findings ... See more keywords
Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease
Sign Up to like & getrecommendations! Published in 2025 at "Future Science OA"
DOI: 10.1080/20565623.2025.2570035
Abstract: Abstract Background Congenital heart disease (CHD) is a leading cause of infant morbidity and mortality in China, creating a significant healthcare burden. While prenatal diagnosis via fetal echocardiography is routine, it is prone to missed… read more here.
Keywords: medium coverage; congenital heart; clinical exome; heart disease ... See more keywords
Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0142
Abstract: Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified… read more here.
Keywords: two chinese; clinical exome; ndp gene; chinese families ... 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
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14262
Abstract: We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases… read more here.
Keywords: sequencing data; clinical exome; exome sequencing; ontario canada ... See more keywords
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14522
Abstract: Hypoxic–ischemic encephalopathy (HIE) occurs in up to 7 out of 1000 births and accounts for almost a quarter of neonatal deaths worldwide. Despite the name, many newborns with HIE have little evidence of perinatal hypoxia.… read more here.
Keywords: exome sequencing; genetic disorders; hypoxic ischemic; clinical exome ... See more keywords
Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
Sign Up to like & getrecommendations! Published in 2018 at "Life Sciences, Society and Policy"
DOI: 10.1186/s40504-018-0081-2
Abstract: BackgroundThe decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use in research, and in the clinic. However, France and Quebec have not yet implemented nation-wide personalized medicine programs using NGS. To… read more here.
Keywords: france quebec; medicine; exome sequencing; clinical exome ... See more keywords