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Literature DB >> 27628564

Guidelines for diagnostic next-generation sequencing.

Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer.

Abstract

Year: 2016 PMID： 27628564 PMCID： PMC5027692 DOI： 10.1038/ejhg.2016.63

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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27 in total

1. Exome Sequencing and Molecular Diagnosis.

Authors: William D Graf
Journal: Dtsch Arztebl Int Date: 2019-03-22 Impact factor: 5.594

Review 2. [Genetic testing to prevent sudden cardiac death].

Authors: B Stallmeyer; S Dittmann; E Schulze-Bahr
Journal: Internist (Berl) Date: 2018-08 Impact factor: 0.743

3. Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.

Authors: Danya F Vears; Emilia Niemiec; Heidi Carmen Howard; Pascal Borry
Journal: Eur J Hum Genet Date: 2018-08-24 Impact factor: 4.246

4. Points to consider for laboratories reporting results from diagnostic genomic sequencing.

Authors: D F Vears; K Sénécal; A J Clarke; L Jackson; A M Laberge; L Lovrecic; A Piton; K L I Van Gassen; H G Yntema; B M Knoppers; P Borry
Journal: Eur J Hum Genet Date: 2017-11-28 Impact factor: 4.246

Review 5. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.

Authors: Alison M Elliott
Journal: Cold Spring Harb Perspect Med Date: 2020-03-02 Impact factor: 6.915

Review 6. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Authors: Zornitza Stark; Rebecca E Foulger; Eleanor Williams; Bryony A Thompson; Chirag Patel; Sebastian Lunke; Catherine Snow; Ivone U S Leong; Arina Puzriakova; Louise C Daugherty; Sarah Leigh; Christopher Boustred; Olivia Niblock; Antonio Rueda-Martin; Oleg Gerasimenko; Kevin Savage; William Bellamy; Victor San Kho Lin; Roman Valls; Lavinia Gordon; Helen K Brittain; Ellen R A Thomas; Ana Lisa Taylor Tavares; Meriel McEntagart; Susan M White; Tiong Y Tan; Alison Yeung; Lilian Downie; Ivan Macciocca; Elena Savva; Crystle Lee; Ain Roesley; Paul De Fazio; Jane Deller; Zandra C Deans; Sue L Hill; Mark J Caulfield; Kathryn N North; Richard H Scott; Augusto Rendon; Oliver Hofmann; Ellen M McDonagh
Journal: Am J Hum Genet Date: 2021-07-29 Impact factor: 11.025

Guidelines for diagnostic next-generation sequencing.

1. Exome Sequencing and Molecular Diagnosis.

Review 2. [Genetic testing to prevent sudden cardiac death].

3. Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.

4. Points to consider for laboratories reporting results from diagnostic genomic sequencing.

Review 5. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.

Review 6. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Review 7. Next-generation sequencing: recent applications to the analysis of colorectal cancer.

8. A phenotype centric benchmark of variant prioritisation tools.

Review 9. Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Review 10. A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?