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Literature DB >> 31015575

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L Deignan¹, Wendy K Chung², Hutton M Kearney³, Kristin G Monaghan⁴, Catherine W Rehder⁵, Elizabeth C Chao⁶.

Abstract

Entities: Chemical

Keywords: genome; reanalysis; reclassification; reevaluation; variant

Mesh：

Year: 2019 PMID： 31015575 PMCID： PMC6559819 DOI： 10.1038/s41436-019-0478-1

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

× No keyword cloud information.

12 in total

1. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Authors: Steven M Harrison; Jill S Dolinksy; Wenjie Chen; Christin D Collins; Soma Das; Joshua L Deignan; Kathryn B Garber; John Garcia; Olga Jarinova; Amy E Knight Johnson; Juha W Koskenvuo; Hane Lee; Rong Mao; Rebecca Mar-Heyming; Andrew S McFaddin; Krista Moyer; Narasimhan Nagan; Stefan Rentas; Avni B Santani; Eija H Seppälä; Brian H Shirts; Timothy Tidwell; Scott Topper; Lisa M Vincent; Kathy Vinette; Heidi L Rehm
Journal: Hum Mutat Date: 2018-11 Impact factor: 4.878

2. Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors: Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal: JAMA Date: 2014-11-12 Impact factor: 56.272

3. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Authors: Hutton M Kearney; Erik C Thorland; Kerry K Brown; Fabiola Quintero-Rivera; Sarah T South
Journal: Genet Med Date: 2011-07 Impact factor: 8.822

4. Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors: Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal: N Engl J Med Date: 2013-10-02 Impact factor: 91.245

5. ACMG clinical laboratory standards for next-generation sequencing.

Authors: Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal: Genet Med Date: 2013-07-25 Impact factor: 8.822

6. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Authors: Kelly D Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Elizabeth C Chao; Brigette Tippin Davis; Ruth M Baxter; Wenqi Zeng; Cameron Mroske; Melissa C Parra; Stephanie K Gandomi; Ira Lu; Xiang Li; Hong Lu; Hsiao-Mei Lu; David Salvador; David Ruble; Monica Lao; Soren Fischbach; Jennifer Wen; Shela Lee; Aaron Elliott; Charles L M Dunlop; Sha Tang
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. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Authors: Rajarshi Ghosh; Ninad Oak; Sharon E Plon
Journal: Genome Biol Date: 2017-11-28 Impact factor: 13.583

9. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

Authors: Julianne M O'Daniel; Heather M McLaughlin; Laura M Amendola; Sherri J Bale; Jonathan S Berg; David Bick; Kevin M Bowling; Elizabeth C Chao; Wendy K Chung; Laura K Conlin; Gregory M Cooper; Soma Das; Joshua L Deignan; Michael O Dorschner; James P Evans; Arezou A Ghazani; Katrina A Goddard; Michele Gornick; Kelly D Farwell Hagman; Tina Hambuch; Madhuri Hegde; Lucia A Hindorff; Ingrid A Holm; Gail P Jarvik; Amy Knight Johnson; Lindsey Mighion; Massimo Morra; Sharon E Plon; Sumit Punj; C Sue Richards; Avni Santani; Brian H Shirts; Nancy B Spinner; Sha Tang; Karen E Weck; Susan M Wolf; Yaping Yang; Heidi L Rehm
Journal: Genet Med Date: 2016-11-03 Impact factor: 8.822

10. Clinical application of whole-exome sequencing across clinical indications.

Authors: Kyle Retterer; Jane Juusola; Megan T Cho; Patrik Vitazka; Francisca Millan; Federica Gibellini; Annette Vertino-Bell; Nizar Smaoui; Julie Neidich; Kristin G Monaghan; Dianalee McKnight; Renkui Bai; Sharon Suchy; Bethany Friedman; Jackie Tahiliani; Daniel Pineda-Alvarez; Gabriele Richard; Tracy Brandt; Eden Haverfield; Wendy K Chung; Sherri Bale
Journal: Genet Med Date: 2015-12-03 Impact factor: 8.822

31 in total

1. Clinical Genetic Screening in Adult Patients with Kidney Disease.

Authors: Enrico Cocchi; Jordan Gabriela Nestor; Ali G Gharavi
Journal: Clin J Am Soc Nephrol Date: 2020-07-09 Impact factor: 8.237

Review 2. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.

Authors: Morgan N Similuk; Jia Yan; Rajarshi Ghosh; Andrew J Oler; Luis M Franco; Michael R Setzer; Michael Kamen; Colleen Jodarski; Thomas DiMaggio; Joie Davis; Rachel Gore; Leila Jamal; Adrienne Borges; Nicole Gentile; Julie Niemela; Chenery Lowe; Kathleen Jevtich; Yunting Yu; Haley Hullfish; Amy P Hsu; Celine Hong; Patricia Littel; Bryce A Seifert; Joshua Milner; Jennifer J Johnston; Xi Cheng; Zhiwen Li; Daniel Veltri; Ke Huang; Krishnaveni Kaladi; Jason Barnett; Lingwen Zhang; Nikita Vlasenko; Yongjie Fan; Eric Karlins; Satishkumar Ranganathan Ganakammal; Robert Gilmore; Emily Tran; Alvin Yun; Joseph Mackey; Svetlana Yazhuk; Justin Lack; Vasudev Kuram; Wenjia Cao; Susan Huse; Karen Frank; Gary Fahle; Sergio Rosenzweig; Yan Su; SuJin Hwang; Weimin Bi; John Bennett; Ian A Myles; Suk See De Ravin; Ivan Fuss; Warren Strober; Bibiana Bielekova; Adriana Almeida de Jesus; Raphaela Goldbach-Mansky; Peter Williamson; Kelly Kumar; Caeden Dempsy; Pamela Frischmeyer-Guerrerio; Robin Fisch; Hyejeong Bolan; Dean D Metcalfe; Hirsh Komarow; Melody Carter; Kirk M Druey; Irini Sereti; Lesia Dropulic; Amy D Klion; Paneez Khoury; Elise M O' Connell; Nicole C Holland-Thomas; Thomas Brown; David H McDermott; Philip M Murphy; Vanessa Bundy; Michael D Keller; Christine Peng; Helen Kim; Stephanie Norman; Ottavia M Delmonte; Elizabeth Kang; Helen C Su; Harry Malech; Alexandra Freeman; Christa Zerbe; Gulbu Uzel; Jenna R E Bergerson; V Koneti Rao; Kenneth N Olivier; Jonathan J Lyons; Andrea Lisco; Jeffrey I Cohen; Michail S Lionakis; Leslie G Biesecker; Sandhya Xirasagar; Luigi D Notarangelo; Steven M Holland; Magdalena A Walkiewicz
Journal: J Allergy Clin Immunol Date: 2022-06-24 Impact factor: 14.290

3. Clinical Interpretation of Sequence Variants.

Authors: Junyu Zhang; Yanyi Yao; Haixian He; Jun Shen
Journal: Curr Protoc Hum Genet Date: 2020-06

4. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Authors: Kandamurugu Manickam; Monica R McClain; Laurie A Demmer; Sawona Biswas; Hutton M Kearney; Jennifer Malinowski; Lauren J Massingham; Danny Miller; Timothy W Yu; Fuki M Hisama
Journal: Genet Med Date: 2021-07-01 Impact factor: 8.822

5. Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.

Authors: Juliann M Savatt; Danielle R Azzariti; David H Ledbetter; Emily Palen; Heidi L Rehm; Erin Rooney Riggs; Christa Lese Martin
Journal: Genet Med Date: 2021-05-18 Impact factor: 8.822

6. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Catherine Rehder; Lora J H Bean; David Bick; Elizabeth Chao; Wendy Chung; Soma Das; Julianne O'Daniel; Heidi Rehm; Vandana Shashi; Lisa M Vincent
Journal: Genet Med Date: 2021-04-29 Impact factor: 8.822

7. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Joshua L Deignan; Caroline Astbury; Garry R Cutting; Daniela Del Gaudio; Anthony R Gregg; Wayne W Grody; Kristin G Monaghan; Sue Richards
Journal: Genet Med Date: 2020-05-14 Impact factor: 8.822

8. DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

Authors: Lora J H Bean; Maren T Scheuner; Michael F Murray; Leslie G Biesecker; Robert C Green; Kristin G Monaghan; Glenn E Palomaki; Richard R Sharp; Tracy L Trotter; Michael S Watson; Cynthia M Powell
Journal: Genet Med Date: 2021-03-31 Impact factor: 8.822

9. Genomic medicine and the "loss of chance" medical malpractice doctrine.

Authors: Jennifer K Wagner; Michelle N Meyer
Journal: HGG Adv Date: 2021-04-05

10. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Authors: David R Murdock; Eric Venner; Donna M Muzny; Ginger A Metcalf; Mullai Murugan; Trevor D Hadley; Varuna Chander; Paul S de Vries; Xiaoming Jia; Aliza Hussain; Ali M Agha; Aniko Sabo; Shoudong Li; Qingchang Meng; Jianhong Hu; Xia Tian; Michelle Cohen; Victoria Yi; Christie L Kovar; Marie-Claude Gingras; Viktoriya Korchina; Chad Howard; Daniel L Riconda; Stacey Pereira; Hadley S Smith; Zohra A Huda; Alexandria Buentello; Patricia R Marino; Lee Leiber; Ashok Balasubramanyam; Christopher I Amos; Andrew B Civitello; Mihail G Chelu; Ronald Maag; Amy L McGuire; Eric Boerwinkle; Xander H T Wehrens; Christie M Ballantyne; Richard A Gibbs
Journal: Genet Med Date: 2021-08-06 Impact factor: 8.864