Results 41 to 50 of about 128,279 (119)

Optimising rapid prenatal exome sequencing in the NHS genomic medicine service: the EXPRESS Synopsis

Health and Social Care Delivery Research
Background Prenatal exome sequencing for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the National Health Service Genomic Medicine Service.
Melissa Hill, Michelle Peter, Morgan Daniel, Hannah McInnes-Dean, Rema Ramakrishnan, Emma Smith, Holly Walton, Laura Blackburn, Jane Fisher, Naomi J Fulop, Marian Knight, Caroline Lafarge, Kerry Leeson-Beevers, Rhiannon Mellis, Stephen Morris, Michael Parker, Sophie Peet, Dagmar Tapon, Wing Han Wu, Sarah L Wynn, Lyn S Chitty   +20 more
doaj   +1 more source

Trio Exome Sequencing in VACTERL Association

Kidney International Reports
Introduction: Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association.
Jasmina Ćomić, Erik Tilch, Korbinian M. Riedhammer, Melanie Brugger, Theresa Brunet, Katharina Eyring, Katharina Vill, Silke Redler, Velibor Tasic, Eberhard Schmiedeke, Frank-Mattias Schäfer, Nora Abazi-Emini, Ekkehart Jenetzky, Nicole Schwarzer, Anke Widenmann, Martin Lacher, Michael Zech, Sabine Grasshoff-Derr, Michaela Geßner, Carmen Kabs, Barbara Seitz, Andreas C. Heydweiller, Oliver Muensterer, Bärbel Lange-Sperandio, Udo Rolle, Johannes Schumacher, Matthias C. Braunisch, Riccardo Berutti, Heiko Reutter, Julia Hoefele   +29 more
doaj   +1 more source

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

PLoS ONE, 2019
In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa   +3 more
doaj   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report

Frontiers in Medicine
BackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu, Man-Man Zhu, Dong-Mei Li, Dong-Mei Li, Yi-Cheng Wu, Yi-Cheng Wu, Qiang Yao, Qiang Yao, Ming-Rong Qie, Ming-Rong Qie, Wei-Wei Sun, Wei-Wei Sun   +11 more
doaj   +1 more source

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

npj Genomic Medicine, 2017
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady   +12 more
doaj   +1 more source

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology
Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper   +29 more
doaj   +1 more source

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient

Clinical Case Reports
Key Clinical Message AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease‐relevant variants within a polymicrobial pulmonary infection case.
Tianyuan Wang, Jindi Ma, Yuan Shu, Bao Hong, Zhouhan Wang, Yingfeng Lu, Xiaopeng Yu, Xi Huang, Yimin Zhang   +8 more
doaj   +1 more source

Drosophila Proteome; Exome Re-sequencing; Sequencing in Nanopores

BioTechniques, 2009
K. Nybo, B. Perry
doaj   +1 more source

Astrocyte-enriched and cilia-related genetic signatures in dementia: A whole-exome sequencing study. [PDF]

Gen Psychiatr
Deng M, Chen Y, Zhao L, Song W, Qiu Q, Sun L, Lin X, Wang W, Lin GN, Li X.   +9 more
europepmc   +1 more source

Searching for BRCA3 by exome sequencing

Hereditary Cancer in Clinical Practice, 2012
Makunin I, Stark M, Gartside M, Chenevix-Trench G   +3 more
doaj   +1 more source