Literature DB >> 29955586

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

Dong Li1, Lifeng Tian1, Hakon Hakonarson1,2,3.   

Abstract

Year:  2018        PMID: 29955586      PMCID: PMC6015936          DOI: 10.21037/atm.2018.01.14

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


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  19 in total

Review 1.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

2.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956

Review 3.  Diagnostic clinical genome and exome sequencing.

Authors:  Leslie G Biesecker; Robert C Green
Journal:  N Engl J Med       Date:  2014-06-19       Impact factor: 91.245

4.  A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Authors:  Arunkanth Ankala; Cristina da Silva; Francesca Gualandi; Alessandra Ferlini; Lora J H Bean; Christin Collins; Alice K Tanner; Madhuri R Hegde
Journal:  Ann Neurol       Date:  2014-12-17       Impact factor: 10.422

5.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

6.  Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Authors:  Manuel A Rivas; Matti Pirinen; Donald F Conrad; Monkol Lek; Emily K Tsang; Konrad J Karczewski; Julian B Maller; Kimberly R Kukurba; David S DeLuca; Menachem Fromer; Pedro G Ferreira; Kevin S Smith; Rui Zhang; Fengmei Zhao; Eric Banks; Ryan Poplin; Douglas M Ruderfer; Shaun M Purcell; Taru Tukiainen; Eric V Minikel; Peter D Stenson; David N Cooper; Katharine H Huang; Timothy J Sullivan; Jared Nedzel; Carlos D Bustamante; Jin Billy Li; Mark J Daly; Roderic Guigo; Peter Donnelly; Kristin Ardlie; Michael Sammeth; Emmanouil T Dermitzakis; Mark I McCarthy; Stephen B Montgomery; Tuuli Lappalainen; Daniel G MacArthur
Journal:  Science       Date:  2015-05-08       Impact factor: 47.728

7.  Identification of allele-specific alternative mRNA processing via transcriptome sequencing.

Authors:  Gang Li; Jae Hoon Bahn; Jae-Hyung Lee; Guangdun Peng; Zugen Chen; Stanley F Nelson; Xinshu Xiao
Journal:  Nucleic Acids Res       Date:  2012-03-29       Impact factor: 16.971

8.  Aberrant gene expression in humans.

Authors:  Yong Zeng; Gang Wang; Ence Yang; Guoli Ji; Candice L Brinkmeyer-Langford; James J Cai
Journal:  PLoS Genet       Date:  2015-01-24       Impact factor: 5.917

9.  Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:  Jenny C Taylor; Hilary C Martin; Stefano Lise; John Broxholme; Jean-Baptiste Cazier; Andy Rimmer; Alexander Kanapin; Gerton Lunter; Simon Fiddy; Chris Allan; A Radu Aricescu; Moustafa Attar; Christian Babbs; Jennifer Becq; David Beeson; Celeste Bento; Patricia Bignell; Edward Blair; Veronica J Buckle; Katherine Bull; Ondrej Cais; Holger Cario; Helen Chapel; Richard R Copley; Richard Cornall; Jude Craft; Karin Dahan; Emma E Davenport; Calliope Dendrou; Olivier Devuyst; Aimée L Fenwick; Jonathan Flint; Lars Fugger; Rodney D Gilbert; Anne Goriely; Angie Green; Ingo H Greger; Russell Grocock; Anja V Gruszczyk; Robert Hastings; Edouard Hatton; Doug Higgs; Adrian Hill; Chris Holmes; Malcolm Howard; Linda Hughes; Peter Humburg; David Johnson; Fredrik Karpe; Zoya Kingsbury; Usha Kini; Julian C Knight; Jonathan Krohn; Sarah Lamble; Craig Langman; Lorne Lonie; Joshua Luck; Davis McCarthy; Simon J McGowan; Mary Frances McMullin; Kerry A Miller; Lisa Murray; Andrea H Németh; M Andrew Nesbit; David Nutt; Elizabeth Ormondroyd; Annette Bang Oturai; Alistair Pagnamenta; Smita Y Patel; Melanie Percy; Nayia Petousi; Paolo Piazza; Sian E Piret; Guadalupe Polanco-Echeverry; Niko Popitsch; Fiona Powrie; Chris Pugh; Lynn Quek; Peter A Robbins; Kathryn Robson; Alexandra Russo; Natasha Sahgal; Pauline A van Schouwenburg; Anna Schuh; Earl Silverman; Alison Simmons; Per Soelberg Sørensen; Elizabeth Sweeney; John Taylor; Rajesh V Thakker; Ian Tomlinson; Amy Trebes; Stephen Rf Twigg; Holm H Uhlig; Paresh Vyas; Tim Vyse; Steven A Wall; Hugh Watkins; Michael P Whyte; Lorna Witty; Ben Wright; Chris Yau; David Buck; Sean Humphray; Peter J Ratcliffe; John I Bell; Andrew Om Wilkie; David Bentley; Peter Donnelly; Gilean McVean
Journal:  Nat Genet       Date:  2015-05-18       Impact factor: 38.330

10.  Genetic diagnosis of Mendelian disorders via RNA sequencing.

Authors:  Laura S Kremer; Daniel M Bader; Christian Mertes; Robert Kopajtich; Garwin Pichler; Arcangela Iuso; Tobias B Haack; Elisabeth Graf; Thomas Schwarzmayr; Caterina Terrile; Eliška Koňaříková; Birgit Repp; Gabi Kastenmüller; Jerzy Adamski; Peter Lichtner; Christoph Leonhardt; Benoit Funalot; Alice Donati; Valeria Tiranti; Anne Lombes; Claude Jardel; Dieter Gläser; Robert W Taylor; Daniele Ghezzi; Johannes A Mayr; Agnes Rötig; Peter Freisinger; Felix Distelmaier; Tim M Strom; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Journal:  Nat Commun       Date:  2017-06-12       Impact factor: 14.919

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  5 in total

1.  Rare diseases: the paradox of an emerging challenge.

Authors:  Elisa Danese; Giuseppe Lippi
Journal:  Ann Transl Med       Date:  2018-09

2.  Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Authors:  Zhenhua Zhang; Freerk van Dijk; Niek de Klein; Mariëlle E van Gijn; Lude H Franke; Richard J Sinke; Morris A Swertz; K Joeri van der Velde
Journal:  Sci Rep       Date:  2021-05-19       Impact factor: 4.379

Review 3.  Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

Authors:  Amir Hossein Saeidian; Leila Youssefian; Hassan Vahidnezhad; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2020-06       Impact factor: 8.551

Review 4.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

Review 5.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266

  5 in total

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