The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
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recent availability of whole-exome sequencing (WES), mainly for research purposes, has led to improved accuracy of diagnosis of DSD patients, identifying causal variants in more than 50% of cases, as well as novel genes causing DSD ( 8 ). Here, we report
Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
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Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil
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Department of Nutrition, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
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counselling. Here we report a family with four patients affected by PTC in three generations and evidence of genetic anticipation, suggesting a true non-syndromic FNMTC. Whole-exome sequencing (WES) was applied to identify a germline variant associated with
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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expression of the IGD phenotype in this ethnic subpopulation ( 1 ). Given that next-generation sequencing (NGS) has emerged a huge number of genes and variation in multiple diseases and disorders, we utilized whole exome sequencing (WES) to examine if
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scenarios (15, 16, 17, 18) . The NGS process is highly complex with multiple steps that may be divided into genomic enrichment (selected, all exons as in exome or none as in whole genome sequencing), sequencing (including library preparation
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46,XY DSD patients between 2016 and 2022 and compare the efficiency of two different next-generation sequencing (NGS) methods, targeted gene panel sequencing (TPS), and whole-exome sequencing (WES). Through analysis and discussion of sequencing
Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China
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). Exome sequencing was performed to identify the causative genetic mutations in two male PHO patients (brothers) and their parents, siblings and other related family members ( Fig. 1 ). Mutations were identified in one of the reported PHO causative gene
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
IMED Biotech Unit, Clinical Discovery Unit, AstraZeneca, UK
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Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
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Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK
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Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
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Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK
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insulinoma with severe refractory hypoglycaemia, in whom PRRT with [ 177 Lu]-octreotate successfully controlled hypoglycaemia. Finally, in a subset of stage I insulinoma, whole-exome sequencing of tumour DNA was performed, aiming to identify somatic mutations
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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custom panels of >150 candidate genes for disorders of SDM across Sweden, Slovenia, Italy, Denmark and Belgium and up to whole exome sequencing (WES) analyses ( Figs 2 and 3 ). This latter approach is prioritized in some HCPs (Copenhagen, Lubeck
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CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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analyzed using the filter settings described previously. WES (whole exome sequencing) analysis Genomic DNA extracted from fresh blood cells from the proband and her father with QiAmp DNA mini kit (Qiagen) was captured using Agilent in
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QuickGene DNA Whole Blood Kit L (Kurabo, Japan). DNA of the patients was submitted for clinical exome sequencing (CES). CES by NGS was performed by Illumina MiSeq ® system (Illumina, USA) using the TruSight One Sequencing Panel ® . The TruSight One