Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia
Frontiers in Genetics, 2022 Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study ...
Hongguo Zhang +9 more
doaj +1 more source
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
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Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
Whole exome sequence analysis of Peters anomaly [PDF]
Human Genetics, 2014 Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Eric, Weh +9 more
openaire +2 more sources
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 +11 more
doaj +1 more source
Pharmacogenomics in children: advantages and challenges of next generation sequencing applications [PDF]
, 2013 Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found
De Paepe, Anne, Vanakker, Olivier
core +4 more sources
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]
, 2020 Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro +44 more
core +1 more source
Whole‐exome sequencing for variant discovery in blepharospasm [PDF]
Molecular Genetics & Genomic Medicine, 2018 AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Jun Tian +14 more
openaire +5 more sources
Diagnostic value of partial exome sequencing in developmental disorders. [PDF]
PLoS ONE, 2018 Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon +19 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 +2 more
core +3 more sources