Literature DB >> 29388946

Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

Karen E Weck1.   

Abstract

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Year:  2018        PMID: 29388946     DOI: 10.1038/gim.2017.269

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  11 in total

1.  Variant Interpretation: Functional Assays to the Rescue.

Authors:  Lea M Starita; Nadav Ahituv; Maitreya J Dunham; Jacob O Kitzman; Frederick P Roth; Georg Seelig; Jay Shendure; Douglas M Fowler
Journal:  Am J Hum Genet       Date:  2017-09-07       Impact factor: 11.025

2.  The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Authors:  Jason L Vassy; Kurt D Christensen; Erica F Schonman; Carrie L Blout; Jill O Robinson; Joel B Krier; Pamela M Diamond; Matthew Lebo; Kalotina Machini; Danielle R Azzariti; Dmitry Dukhovny; David W Bates; Calum A MacRae; Michael F Murray; Heidi L Rehm; Amy L McGuire; Robert C Green
Journal:  Ann Intern Med       Date:  2017-06-27       Impact factor: 25.391

3.  Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Authors:  Sara L Van Driest; Quinn S Wells; Sarah Stallings; William S Bush; Adam Gordon; Deborah A Nickerson; Jerry H Kim; David R Crosslin; Gail P Jarvik; David S Carrell; James D Ralston; Eric B Larson; Suzette J Bielinski; Janet E Olson; Zi Ye; Iftikhar J Kullo; Noura S Abul-Husn; Stuart A Scott; Erwin Bottinger; Berta Almoguera; John Connolly; Rosetta Chiavacci; Hakon Hakonarson; Laura J Rasmussen-Torvik; Vivian Pan; Stephen D Persell; Maureen Smith; Rex L Chisholm; Terrie E Kitchner; Max M He; Murray H Brilliant; John R Wallace; Kimberly F Doheny; M Benjamin Shoemaker; Rongling Li; Teri A Manolio; Thomas E Callis; Daniela Macaya; Marc S Williams; David Carey; Jamie D Kapplinger; Michael J Ackerman; Marylyn D Ritchie; Joshua C Denny; Dan M Roden
Journal:  JAMA       Date:  2016-01-05       Impact factor: 56.272

4.  Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings.

Authors:  Michael F Murray
Journal:  Genet Med       Date:  2015-10-08       Impact factor: 8.822

5.  New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Authors:  Charlotte Andreasen; Jonas B Nielsen; Lena Refsgaard; Anders G Holst; Alex H Christensen; Laura Andreasen; Ahmad Sajadieh; Stig Haunsø; Jesper H Svendsen; Morten S Olesen
Journal:  Eur J Hum Genet       Date:  2013-01-09       Impact factor: 4.246

6.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

7.  Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Authors:  Christopher M Haggerty; Cynthia A James; Hugh Calkins; Crystal Tichnell; Joseph B Leader; Dustin N Hartzel; Christopher D Nevius; Sarah A Pendergrass; Thomas N Person; Marci Schwartz; Marylyn D Ritchie; David J Carey; David H Ledbetter; Marc S Williams; Frederick E Dewey; Alexander Lopez; John Penn; John D Overton; Jeffrey G Reid; Matthew Lebo; Heather Mason-Suares; Christina Austin-Tse; Heidi L Rehm; Brian P Delisle; Daniel J Makowski; Vishal C Mehra; Michael F Murray; Brandon K Fornwalt
Journal:  Genet Med       Date:  2017-05-04       Impact factor: 8.822

8.  Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.

Authors:  Yury A Barbitoff; Igor V Bezdvornykh; Dmitrii E Polev; Elena A Serebryakova; Andrey S Glotov; Oleg S Glotov; Alexander V Predeus
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

9.  How do research participants perceive "uncertainty" in genome sequencing?

Authors:  Barbara B Biesecker; William Klein; Katie L Lewis; Tyler C Fisher; Martha Frances Wright; Leslie G Biesecker; Paul K Han
Journal:  Genet Med       Date:  2014-05-29       Impact factor: 8.822

10.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822

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  8 in total

1.  Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?

Authors:  Ana Morales; Ray E Hershberger
Journal:  Circ Genom Precis Med       Date:  2018-06

2.  Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

Authors:  Sian Ellard; Kevin Colclough; Kashyap A Patel; Andrew T Hattersley
Journal:  J Clin Invest       Date:  2020-01-02       Impact factor: 14.808

Review 3.  How Functional Genomics Can Keep Pace With VUS Identification.

Authors:  Corey L Anderson; Saba Munawar; Louise Reilly; Timothy J Kamp; Craig T January; Brian P Delisle; Lee L Eckhardt
Journal:  Front Cardiovasc Med       Date:  2022-07-04

4.  Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.

Authors:  Paul E Gray; Bethany A Pillay; Stuart G Tangye; Jin Yan Yap; William A Figgett; John Reeves; Sarah K Kummerfeld; Jennifer Stoddard; Gulbu Uzel; Huie Jing; Helen C Su; Dianne E Campbell; Anna Sullivan; Leslie Burnett; Jane Peake; Cindy S Ma
Journal:  J Clin Immunol       Date:  2021-10-17       Impact factor: 8.542

5.  Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.

Authors:  Jordan E Ezekian; Catherine Rehder; Priya S Kishnani; Andrew P Landstrom
Journal:  Circ Genom Precis Med       Date:  2021-08-13

6.  Variants of Uncertain Significance and "Missing Pathogenicity".

Authors:  Diane Fatkin; Renee Johnson
Journal:  J Am Heart Assoc       Date:  2020-02-03       Impact factor: 5.501

7.  Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Authors:  Jiale Xiang; Jiyun Yang; Lisha Chen; Qiang Chen; Haiyan Yang; Chengcheng Sun; Qing Zhou; Zhiyu Peng
Journal:  Sci Rep       Date:  2020-01-15       Impact factor: 4.379

8.  Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Authors:  Dabin Moon; Hye Won Park; Dongheon Surl; Dongju Won; Seung-Tae Lee; Saeam Shin; Jong Rak Choi; Jinu Han
Journal:  Genes (Basel)       Date:  2021-12-23       Impact factor: 4.096

  8 in total

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