Literature DB >> 29621958

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing.

John S Mattick1, Marcel Dinger2, Nicole Schonrock2, Mark Cowley2.   

Abstract

Keywords:  Genetic testing; Molecular medicine; Pharmacogenomics; Sequence analysis

Mesh：

Year:  2018        PMID： 29621958

Source DB:  PubMed          Journal:  Med J Aust        ISSN： 0025-729X            Impact factor:   7.738


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  8 in total

1.  Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Authors:  Jamie M Ellingford; Joo Wook Ahn; Diana Baralle; Sian Ellard; David R FitzPatrick; William G Newman; Jenny C Taylor; Steven M Harrison; Nicola Whiffin; Richard D Bagnall; Stephanie Barton; Chris Campbell; Kate Downes; Celia Duff-Farrier; John M Greally; Jodie Ingles; Neesha Krishnan; Jenny Lord; Hilary C Martin; Anne O'Donnell-Luria; Simon C Ramsden; Heidi L Rehm; Ebony Richardson; Moriel Singer-Berk; Maggie Williams; Jordan C Wood; Caroline F Wright
Journal:  Genome Med       Date:  2022-07-19       Impact factor: 15.266

2.  Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Authors:  Nika Schuermans; Dimitri Hemelsoet; Bart Dermaut; Bruce Poppe; Wim Terryn; Sanne Steyaert; Rudy Van Coster; Paul J Coucke; Wouter Steyaert; Bert Callewaert; Elke Bogaert; Patrick Verloo; Arnaud V Vanlander; Elke Debackere; Jody Ghijsels; Pontus LeBlanc; Hannah Verdin; Leslie Naesens; Filomeen Haerynck; Steven Callens
Journal:  Orphanet J Rare Dis       Date:  2022-05-23       Impact factor: 4.303

3.  Improving diagnostics of rare genetic diseases with NGS approaches.

Authors:  Mateja Vinkšel; Karin Writzl; Aleš Maver; Borut Peterlin
Journal:  J Community Genet       Date:  2021-01-15

4.  Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Authors:  Vicente A Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H Smith; Charlotte L Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J Hayflick; Maja Hempel; Yulia S Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L Stenton; Tim M Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W Taylor; Saskia B Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Journal:  Genome Med       Date:  2022-04-05       Impact factor: 11.117

Review 5.  Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.

Authors:  Thomas I Hewat; Matthew B Johnson; Sarah E Flanagan
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-07       Impact factor: 6.055

Review 6.  A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting.

Authors:  Alan Taylor; Zeinab Alloub; Ahmad Abou Tayoun
Journal:  Genes (Basel)       Date:  2021-05-27       Impact factor: 4.096

7.  Personalised analytics for rare disease diagnostics.

Authors:  Denise Anderson; Gareth Baynam; Jenefer M Blackwell; Timo Lassmann
Journal:  Nat Commun       Date:  2019-11-21       Impact factor: 14.919

Review 8.  Splicing in the Diagnosis of Rare Disease: Advances and Challenges.

Authors:  Jenny Lord; Diana Baralle
Journal:  Front Genet       Date:  2021-07-01       Impact factor: 4.599
  8 in total

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