Literature DB >> 29431109

Whole genome sequencing in the clinic: empowerment or too much information?

Amanda J Berberich1, Rosettia Ho1, Robert A Hegele2.   

Abstract

Mesh：

Year:  2018        PMID： 29431109      PMCID： PMC5798981          DOI： 10.1503/cmaj.180076

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


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  9 in total

Review 1.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Authors:  Kym M Boycott; Megan R Vanstone; Dennis E Bulman; Alex E MacKenzie
Journal:  Nat Rev Genet       Date:  2013-09-03       Impact factor: 53.242

Review 2.  Whole exome and whole genome sequencing.

Authors:  David Bick; David Dimmock
Journal:  Curr Opin Pediatr       Date:  2011-12       Impact factor: 2.856

3.  Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps.

Authors:  Teri A Manolio
Journal:  Ann Intern Med       Date:  2017-06-27       Impact factor: 25.391

Review 4.  Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease.

Authors:  Sali M K Farhan; Robert A Hegele
Journal:  Can J Cardiol       Date:  2012-11-28       Impact factor: 5.223

Review 5.  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

6.  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

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.  Harvard Personal Genome Project: lessons from participatory public research.

Authors:  Madeleine P Ball; Jason R Bobe; Michael F Chou; Tom Clegg; Preston W Estep; Jeantine E Lunshof; Ward Vandewege; Alexander Zaranek; George M Church
Journal:  Genome Med       Date:  2014-02-28       Impact factor: 11.117

Review 9.  Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Authors:  S L Sawyer; T Hartley; D A Dyment; C L Beaulieu; J Schwartzentruber; A Smith; H M Bedford; G Bernard; F P Bernier; B Brais; D E Bulman; J Warman Chardon; D Chitayat; J Deladoëy; B A Fernandez; P Frosk; M T Geraghty; B Gerull; W Gibson; R M Gow; G E Graham; J S Green; E Heon; G Horvath; A M Innes; N Jabado; R H Kim; R K Koenekoop; A Khan; O J Lehmann; R Mendoza-Londono; J L Michaud; S M Nikkel; L S Penney; C Polychronakos; J Richer; G A Rouleau; M E Samuels; V M Siu; O Suchowersky; M A Tarnopolsky; G Yoon; F R Zahir; J Majewski; K M Boycott
Journal:  Clin Genet       Date:  2015-09-22       Impact factor: 4.438
  9 in total
  4 in total

1.  Comprehension of skin cancer genetic risk feedback in primary care patients.

Authors:  Erva Khan; Kimberly A Kaphingst; Kirsten Meyer White; Andrew Sussman; Dolores Guest; Elizabeth Schofield; Yvonne T Dailey; Erika Robers; Matthew R Schwartz; Yuelin Li; David Buller; Keith Hunley; Marianne Berwick; Jennifer L Hay
Journal:  J Community Genet       Date:  2021-11-19

2.  Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.

Authors:  Agnes Sebastian; June C Carroll; Leslie E Oldfield; Chloe Mighton; Salma Shickh; Elizabeth Uleryk; Yvonne Bombard
Journal:  Genet Med       Date:  2021-01-08       Impact factor: 8.822

3.  Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Authors:  Paula S Felicio; Rebeca S Grasel; Natalia Campacci; Andre E de Paula; Henrique C R Galvão; Giovana T Torrezan; Cristina S Sabato; Gabriela C Fernandes; Cristiano P Souza; Rodrigo D Michelli; Carlos E Andrade; Bruna Durães De Figueiredo Barros; Marcus M Matsushita; Timothée Revil; Jiannis Ragoussis; Fergus J Couch; Steven N Hart; Rui M Reis; Matias E Melendez; Patricia N Tonin; Dirce M Carraro; Edenir I Palmero
Journal:  Hum Mutat       Date:  2020-12-28       Impact factor: 4.878

4.  CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

Authors:  Shuang Li; K Joeri van der Velde; Dick de Ridder; Aalt D J van Dijk; Dimitrios Soudis; Leslie R Zwerwer; Patrick Deelen; Dennis Hendriksen; Bart Charbon; Marielle E van Gijn; Kristin Abbott; Birgit Sikkema-Raddatz; Cleo C van Diemen; Wilhelmina S Kerstjens-Frederikse; Richard J Sinke; Morris A Swertz
Journal:  Genome Med       Date:  2020-08-24       Impact factor: 11.117
  4 in total

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