Literature DB >> 30713947

Will New Genetic Techniques Like Exome Sequencing Obviate the Need for Clinical Expertise? No.

Kapil D Sethi1, Anthony E Lang2.   

Abstract

Keywords:  whole‐exome sequencing; clinical exome sequencing; clinical expertise

Year:  2016        PMID： 30713947      PMCID： PMC6353480          DOI： 10.1002/mdc3.12443

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  11 in total

1.  The incidentalome: a threat to genomic medicine.

Authors:  Isaac S Kohane; Daniel R Masys; Russ B Altman
Journal:  JAMA       Date:  2006-07-12       Impact factor: 56.272

2.  Other causes of ataxia in patients with SCA mutations.

Authors:  Steven B Dawson; John C Morgan; Kapil D Sethi
Journal:  Clin Neurol Neurosurg       Date:  2006-04-18       Impact factor: 1.876

3.  Management of incidental findings in clinical genomic sequencing.

Authors:  Joel B Krier; Robert C Green
Journal:  Curr Protoc Hum Genet       Date:  2013

4.  Would prostate cancer detected by screening with prostate-specific antigen develop into clinical cancer if left undiagnosed? A comparison of two population-based studies in Sweden.

Authors:  J Hugosson; G Aus; C Becker; S Carlsson; H Eriksson; H Lilja; P Lodding; G Tibblin
Journal:  BJU Int       Date:  2000-06       Impact factor: 5.588

5.  Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Authors:  Matthew A Lines; Rebekah Jobling; Lauren Brady; Christian R Marshall; Stephen W Scherer; Amadeo R Rodriguez; Liesly Lee; Anthony E Lang; Tiago A Mestre; Ronald J A Wanders; Sacha Ferdinandusse; Mark A Tarnopolsky
Journal:  Neurology       Date:  2014-02-19       Impact factor: 9.910

6.  ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

Authors: 
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

8.  An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:  Catherine A Brownstein; Alan H Beggs; Nils Homer; Barry Merriman; Timothy W Yu; Katherine C Flannery; Elizabeth T DeChene; Meghan C Towne; Sarah K Savage; Emily N Price; Ingrid A Holm; Lovelace J Luquette; Elaine Lyon; Joseph Majzoub; Peter Neupert; David McCallie; Peter Szolovits; Huntington F Willard; Nancy J Mendelsohn; Renee Temme; Richard S Finkel; Sabrina W Yum; Livija Medne; Shamil R Sunyaev; Ivan Adzhubey; Christopher A Cassa; Paul I W de Bakker; Hatice Duzkale; Piotr Dworzyński; William Fairbrother; Laurent Francioli; Birgit H Funke; Monica A Giovanni; Robert E Handsaker; Kasper Lage; Matthew S Lebo; Monkol Lek; Ignaty Leshchiner; Daniel G MacArthur; Heather M McLaughlin; Michael F Murray; Tune H Pers; Paz P Polak; Soumya Raychaudhuri; Heidi L Rehm; Rachel Soemedi; Nathan O Stitziel; Sara Vestecka; Jochen Supper; Claudia Gugenmus; Bernward Klocke; Alexander Hahn; Max Schubach; Mortiz Menzel; Saskia Biskup; Peter Freisinger; Mario Deng; Martin Braun; Sven Perner; Richard J H Smith; Janeen L Andorf; Jian Huang; Kelli Ryckman; Val C Sheffield; Edwin M Stone; Thomas Bair; E Ann Black-Ziegelbein; Terry A Braun; Benjamin Darbro; Adam P DeLuca; Diana L Kolbe; Todd E Scheetz; Aiden E Shearer; Rama Sompallae; Kai Wang; Alexander G Bassuk; Erik Edens; Katherine Mathews; Steven A Moore; Oleg A Shchelochkov; Pamela Trapane; Aaron Bossler; Colleen A Campbell; Jonathan W Heusel; Anne Kwitek; Tara Maga; Karin Panzer; Thomas Wassink; Douglas Van Daele; Hela Azaiez; Kevin Booth; Nic Meyer; Michael M Segal; Marc S Williams; Gerard Tromp; Peter White; Donald Corsmeier; Sara Fitzgerald-Butt; Gail Herman; Devon Lamb-Thrush; Kim L McBride; David Newsom; Christopher R Pierson; Alexander T Rakowsky; Aleš Maver; Luca Lovrečić; Anja Palandačić; Borut Peterlin; Ali Torkamani; Anna Wedell; Mikael Huss; Andrey Alexeyenko; Jessica M Lindvall; Måns Magnusson; Daniel Nilsson; Henrik Stranneheim; Fulya Taylan; Christian Gilissen; Alexander Hoischen; Bregje van Bon; Helger Yntema; Marcel Nelen; Weidong Zhang; Jason Sager; Lu Zhang; Kathryn Blair; Deniz Kural; Michael Cariaso; Greg G Lennon; Asif Javed; Saloni Agrawal; Pauline C Ng; Komal S Sandhu; Shuba Krishna; Vamsi Veeramachaneni; Ofer Isakov; Eran Halperin; Eitan Friedman; Noam Shomron; Gustavo Glusman; Jared C Roach; Juan Caballero; Hannah C Cox; Denise Mauldin; Seth A Ament; Lee Rowen; Daniel R Richards; F Anthony San Lucas; Manuel L Gonzalez-Garay; C Thomas Caskey; Yu Bai; Ying Huang; Fang Fang; Yan Zhang; Zhengyuan Wang; Jorge Barrera; Juan M Garcia-Lobo; Domingo González-Lamuño; Javier Llorca; Maria C Rodriguez; Ignacio Varela; Martin G Reese; Francisco M De La Vega; Edward Kiruluta; Michele Cargill; Reece K Hart; Jon M Sorenson; Gholson J Lyon; David A Stevenson; Bruce E Bray; Barry M Moore; Karen Eilbeck; Mark Yandell; Hongyu Zhao; Lin Hou; Xiaowei Chen; Xiting Yan; Mengjie Chen; Cong Li; Can Yang; Murat Gunel; Peining Li; Yong Kong; Austin C Alexander; Zayed I Albertyn; Kym M Boycott; Dennis E Bulman; Paul M K Gordon; A Micheil Innes; Bartha M Knoppers; Jacek Majewski; Christian R Marshall; Jillian S Parboosingh; Sarah L Sawyer; Mark E Samuels; Jeremy Schwartzentruber; Isaac S Kohane; David M Margulies
Journal:  Genome Biol       Date:  2014-03-25       Impact factor: 13.583

9.  Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Authors:  Saumya Shekhar Jamuar; Jyn Ling Kuan; Maggie Brett; Zenia Tiang; Wilson Lek Wen Tan; Jiin Ying Lim; Wendy Kein Meng Liew; Asif Javed; Woei Kang Liew; Hai Yang Law; Ee Shien Tan; Angeline Lai; Ivy Ng; Yik Ying Teo; Byrappa Venkatesh; Bruno Reversade; Ene Choo Tan; Roger Foo
Journal:  EBioMedicine       Date:  2016-02-04       Impact factor: 8.143

10.  Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?

Authors:  Anna Rita Bentivoglio; Mario Loi; Enza M Valente; Tamara Ialongo; Pietro Tonali; Alberto Albanese
Journal:  Mov Disord       Date:  2002-09       Impact factor: 10.338
View more
  1 in total

1.  Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Authors:  Patricio Millar Vernetti; María Agustina Ruiz Yanzi; Malco Rossi; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-20
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.