Literature DB >> 34012069

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

David T Miller1, Kristy Lee2, Adam S Gordon3, Laura M Amendola4, Kathy Adelman5, Sherri J Bale6, Wendy K Chung7, Michael H Gollob8, Steven M Harrison9, Gail E Herman10, Ray E Hershberger11, Teri E Klein12, Kent McKelvey13, C Sue Richards14, Christopher N Vlangos15, Douglas R Stewart16, Michael S Watson17, Christa Lese Martin18.   

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Year:  2021        PMID: 34012069     DOI: 10.1038/s41436-021-01171-4

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


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  46 in total

1.  Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Authors:  Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

2.  The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.

Authors:  Alice B Popejoy; Deborah I Ritter; Kristy Crooks; Erin Currey; Stephanie M Fullerton; Lucia A Hindorff; Barbara Koenig; Erin M Ramos; Elena P Sorokin; Hannah Wand; Mathew W Wright; James Zou; Christopher R Gignoux; Vence L Bonham; Sharon E Plon; Carlos D Bustamante
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

3.  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

4.  A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.

Authors:  Marci L B Schwartz; Cara Zayac McCormick; Amanda L Lazzeri; D'Andra M Lindbuchler; Miranda L G Hallquist; Kandamurugu Manickam; Adam H Buchanan; Alanna Kulchak Rahm; Monica A Giovanni; Lauren Frisbie; Carroll N Flansburg; F Daniel Davis; Amy C Sturm; Christine Nicastro; Matthew S Lebo; Heather Mason-Suares; Lisa Marie Mahanta; David J Carey; Janet L Williams; Marc S Williams; David H Ledbetter; W Andrew Faucett; Michael F Murray
Journal:  Am J Hum Genet       Date:  2018-08-09       Impact factor: 11.025

5.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

6.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Authors:  Laura M Amendola; Michael O Dorschner; Peggy D Robertson; Joseph S Salama; Ragan Hart; Brian H Shirts; Mitzi L Murray; Mari J Tokita; Carlos J Gallego; Daniel Seung Kim; James T Bennett; David R Crosslin; Jane Ranchalis; Kelly L Jones; Elisabeth A Rosenthal; Ella R Jarvik; Andy Itsara; Emily H Turner; Daniel S Herman; Jennifer Schleit; Amber Burt; Seema M Jamal; Jenica L Abrudan; Andrew D Johnson; Laura K Conlin; Matthew C Dulik; Avni Santani; Danielle R Metterville; Melissa Kelly; Ann Katherine M Foreman; Kristy Lee; Kent D Taylor; Xiuqing Guo; Kristy Crooks; Lesli A Kiedrowski; Leslie J Raffel; Ora Gordon; Kalotina Machini; Robert J Desnick; Leslie G Biesecker; Steven A Lubitz; Surabhi Mulchandani; Greg M Cooper; Steven Joffe; C Sue Richards; Yaoping Yang; Jerome I Rotter; Stephen S Rich; Christopher J O'Donnell; Jonathan S Berg; Nancy B Spinner; James P Evans; Stephanie M Fullerton; Kathleen A Leppig; Robin L Bennett; Thomas Bird; Virginia P Sybert; William M Grady; Holly K Tabor; Jerry H Kim; Michael J Bamshad; Benjamin Wilfond; Arno G Motulsky; C Ronald Scott; Colin C Pritchard; Tom D Walsh; Wylie Burke; Wendy H Raskind; Peter Byers; Fuki M Hisama; Heidi Rehm; Debbie A Nickerson; Gail P Jarvik
Journal:  Genome Res       Date:  2015-01-30       Impact factor: 9.043

7.  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

8.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

9.  Reporting genomic secondary findings: ACMG members weigh in.

Authors:  Maren T Scheuner; Jane Peredo; Judith Benkendorf; Bruce Bowdish; Gerald Feldman; Lynn Fleisher; John J Mulvihill; Michael Watson; Gail E Herman; James Evans
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

10.  Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Authors:  Cristopher V Van Hout; Ioanna Tachmazidou; Joshua D Backman; Joshua D Hoffman; Daren Liu; Ashutosh K Pandey; Claudia Gonzaga-Jauregui; Shareef Khalid; Bin Ye; Nilanjana Banerjee; Alexander H Li; Colm O'Dushlaine; Anthony Marcketta; Jeffrey Staples; Claudia Schurmann; Alicia Hawes; Evan Maxwell; Leland Barnard; Alexander Lopez; John Penn; Lukas Habegger; Andrew L Blumenfeld; Xiaodong Bai; Sean O'Keeffe; Ashish Yadav; Kavita Praveen; Marcus Jones; William J Salerno; Wendy K Chung; Ida Surakka; Cristen J Willer; Kristian Hveem; Joseph B Leader; David J Carey; David H Ledbetter; Lon Cardon; George D Yancopoulos; Aris Economides; Giovanni Coppola; Alan R Shuldiner; Suganthi Balasubramanian; Michael Cantor; Matthew R Nelson; John Whittaker; Jeffrey G Reid; Jonathan Marchini; John D Overton; Robert A Scott; Gonçalo R Abecasis; Laura Yerges-Armstrong; Aris Baras
Journal:  Nature       Date:  2020-10-21       Impact factor: 69.504

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  21 in total

1.  Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications.

Authors:  William L Macken; Anneke M Lucassen; Michael G Hanna; Robert D S Pitceathly
Journal:  Nat Rev Genet       Date:  2021-05-28       Impact factor: 53.242

2.  Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

Authors:  Constance F Wells; Guilaine Boursier; Kevin Yauy; Nathalie Ruiz-Pallares; Déborah Mechin; Valentin Ruault; Mylène Tharreau; Patricia Blanchet; Lucile Pinson; Christine Coubes; Marc Fila; Julien Baleine; Odile Pidoux; Maliha Badr; Christophe Milesi; Gilles Cambonie; Renaud Mesnage; Maëlle Dereure; Olivier Ardouin; Thomas Guignard; David Geneviève; Mouna Barat-Houari; Marjolaine Willems
Journal:  Eur J Hum Genet       Date:  2022-06-22       Impact factor: 5.351

3.  Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.

Authors:  Vasiliki Rahimzadeh; Jan M Friedman; Guido de Wert; Bartha M Knoppers
Journal:  Front Genet       Date:  2022-07-04       Impact factor: 4.772

4.  A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.

Authors:  Esteban Astiazaran-Symonds; Jung Kim; Jeremy S Haley; Sun Young Kim; H Shanker Rao; Regeneron Genetics Center; David J Carey; Douglas R Stewart; Alisa M Goldstein
Journal:  Cancers (Basel)       Date:  2022-07-02       Impact factor: 6.575

5.  The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.

Authors:  Debarshi Mustafi; Fuki M Hisama; Jennifer Huey; Jennifer R Chao
Journal:  Ophthalmol Retina       Date:  2022-03-18

6.  Genomic medicine year in review: 2021.

Authors:  Teri A Manolio; Carol J Bult; Rex L Chisholm; Patricia A Deverka; Geoffrey S Ginsburg; Madison Goldrich; Gail P Jarvik; George A Mensah; Erin M Ramos; Mary V Relling; Dan M Roden; Robb Rowley; Marc S Williams; Eric D Green
Journal:  Am J Hum Genet       Date:  2021-12-02       Impact factor: 11.043

7.  Heart Failure, Precision Medicine, and Incremental Equity: The Case of Hereditary Amyloid Cardiomyopathy.

Authors:  Melvin R Echols; Herman Taylor
Journal:  JAMA       Date:  2022-04-12       Impact factor: 157.335

Review 8.  The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.

Authors:  Ray E Hershberger; Jason Cowan; Elizabeth Jordan; Daniel D Kinnamon
Journal:  Circ Res       Date:  2021-05-13       Impact factor: 17.367

9.  My Research Results: a program to facilitate return of clinically actionable genomic research findings.

Authors:  Amanda M Willis; Bronwyn Terrill; Angela Pearce; Alison McEwen; Mandy L Ballinger; Mary-Anne Young
Journal:  Eur J Hum Genet       Date:  2021-10-04       Impact factor: 4.246

10.  An international policy on returning genomic research results.

Authors:  Anna C F Lewis; Bartha Maria Knoppers; Robert C Green
Journal:  Genome Med       Date:  2021-07-15       Impact factor: 11.117

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