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

被引：0

作者：

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 Jr

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 IW 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

机构：

[1] Harvard Medical School,Division of Genetics and Genomics, The Research Connection and The Manton Center for Orphan Disease Research, Boston Children’s Hospital

[2] Claritas Genomics,Center for Biomedical Informatics

[3] Life Technologies,ARUP Laboratories

[4] Harvard Medical School,Division of Endocrinology, Boston Children's Hospital

[5] University of Utah School of Medicine,Microsoft Health Solutions Group

[6] Harvard Medical School,Medical Informatics

[7] Microsoft Corporation,Department of Electrical Engineering and Computer Science

[8] Cerner Corporation,Duke Institute for Genome Sciences & Policy

[9] Massachusetts Institute of Technology,Department of Medical Genetics

[10] Duke University,Division of Neurology

[11] Children’s Hospitals and Clinics of Minnesota,Division of Neurology, Children’s Hospital of Philadelphia, and Department of Neurology, Perelmen School of Medicine

[12] Nemours Children's Hospital,Division of Neurology

[13] University of Pennsylvania,Division of Genetics, Brigham and Woman’s Hospital

[14] Children’s Hospital of Philadelphia,Department of Medical Genetics

[15] Harvard Medical School,Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Brigham and Woman’s Hospital

[16] University Medical Center Utrecht,Center for Biological Sequence Analysis, Department of Systems Biology

[17] Harvard Medical School,Center for Computational Molecular Biology

[18] Technical University of Denmark,Department of Genetics

[19] Brown University,Pediatric Surgical Research Laboratories, Massachusetts General Hospital

[20] Harvard Medical School,Analytic and Translational Genetics Unit, Massachusetts General Hospital

[21] Harvard Medical School,Division of Endocrinology and Center for Basic and Translational Obesity Research

[22] Harvard Medical School,Department of Prostate Cancer Research, Institute of Pathology

[23] Children’s Hospital Boston,Iowa Institute of Human Genetics

[24] Genomatix Software GmbH,Iowa Institute of Human Genetics, College of Liberal Arts and Sciences

[25] CeGaT GmbH,Iowa Institute of Human Genetics, Department of Epidemiology, College of Public Health

[26] Children's Hospital Reutlingen,Howard Hughes Medical Institute

[27] University Hospital of Bonn,Iowa Institute of Human Genetics, College of Engineering

[28] Carver College of Medicine,Iowa Institute of Human Genetics, Department of Biostatistics, College of Public Health

[29] The University of Iowa,Nationwide Children’s Hospital, Department of Pediatrics

[30] The University of Iowa,Clinical Institute of Medical Genetics, Department of Obstetrics and Gynecology

[31] The University of Iowa,The Scripps Translational Science Institute

[32] University of Iowa,Department of Molecular Medicine and Surgery, Science for Life Laboratory

[33] The University of Iowa,Centre for Inherited Metabolic Disorders

[34] The University of Iowa,Center for Molecular Medicine

[35] SimulConsult,Science for Life Laboratory, Department of Biochemistry and Biophysics

[36] Geisinger Health System,School of Biotechnology, Science for Life Laboratory

[37] The Ohio State University,Department of Biosciences and Nutrition

[38] University Medical Centre Ljubljana,Department of Clinical Genetics

[39] The Scripps Research Institute,Department of Human Genetics

[40] Karolinska Institutet,Computational and Mathematical Biology Genome Institute of Singapore

[41] Karolinska University Hospital,University of Texas Graduate School of Biomedical Sciences, Department of Epidemiology

[42] Karolinska Institutet,Division of Next Generation Sequencing, Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine

[43] Stockholm University,Department of Molecular and Human Genetics

[44] Royal Institute of Technology,Stem Cell Biology and Regenerative Medicine, School of Medicine

[45] Karolinska Institutet,National Heart Lung and Blood Institute

[46] Karolinska University Hospital,Departamento de Biología Molecular

[47] Radboud University Nijmegen Medical Centre,División de Pediatría. Departamento de Ciencias Médicas y Quirúrgicas

[48] Sanofi,Hospital Universitario Marqués de Valdecilla

[49] Seven Bridges Genomics Inc,Stanley Institute for Cognitive Genomics

[50] River Road Bio,Department of Pediatrics

来源：

Genome Biology | / 15卷

关键词：

Whole Genome Sequencing; Variant Calling; Whole Exome Sequencing; Nemaline Myopathy; GJB2 Mutation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 6 条

[1] An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein, Catherine A.
Beggs, Alan H.
Homer, Nils
Merriman, Barry
Yu, Timothy W.
Flannery, Katherine C.
DeChene, Elizabeth T.
Towne, Meghan C.
Savage, Sarah K.
Price, Emily N.
Holm, Ingrid A.
Luquette, Lovelace J.
Lyon, Elaine
Majzoub, Joseph
Neupert, Peter
McCallie, David, Jr.
Szolovits, Peter
Willard, Huntington F.
Mendelsohn, Nancy J.
Temme, Renee
Finkel, Richard S.
Yum, Sabrina W.
Medne, Livija
Sunyaev, Shamil R.
Adzhubey, Ivan
Cassa, Christopher A.
de Bakker, Paul I. W.
Duzkale, Hatice
Dworzynski, Piotr
Fairbrother, William
Francioli, Laurent
Funke, Birgit H.
Giovanni, Monica A.
Handsaker, Robert E.
Lage, Kasper
Lebo, Matthew S.
Lek, Monkol
Leshchiner, Ignaty
MacArthur, Daniel G.
McLaughlin, Heather M.
Murray, Michael F.
Pers, Tune H.
Polak, Paz P.
Raychaudhuri, Soumya
Rehm, Heidi L.
Soemedi, Rachel
Stitziel, Nathan O.
Vestecka, Sara
Supper, Jochen
Gugenmus, Claudia
[J]. GENOME BIOLOGY, 2014, 15 (03):
[2] Best practices for the interpretation and reporting of clinical genome sequencing
Austin-Tse, Chrissy
Jobanputra, Vaidehi
Perry, Denise
Bick, David
Taft, Ryan
Venner, Eric
Gibbs, Richard
Young, Ted
Barnett, Sarah
Belmont, John
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David
Rehman, Atteeq
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton
Rehm, Heidi
[J]. GENETICS IN MEDICINE, 2022, 24 (03) : S365 - S366
[3] Best practices for the interpretation and reporting of clinical whole genome sequencing
Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
[J]. NPJ GENOMIC MEDICINE, 2022, 7 (01)
[4] Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina A. Austin-Tse
Vaidehi Jobanputra
Denise L. Perry
David Bick
Ryan J. Taft
Eric Venner
Richard A. Gibbs
Ted Young
Sarah Barnett
John W. Belmont
Nicole Boczek
Shimul Chowdhury
Katarzyna A. Ellsworth
Saurav Guha
Shashikant Kulkarni
Cherisse Marcou
Linyan Meng
David R. Murdock
Atteeq U. Rehman
Elizabeth Spiteri
Amanda Thomas-Wilson
Hutton M. Kearney
Heidi L. Rehm
[J]. npj Genomic Medicine, 7
[5] Towards unified fi ed reporting of genome sequencing results in clinical microbiology
Mutschler, Eugenio
Roloff, Tim
Neves, Aitana
Aamot, Hege Vangstein
Rodriguez-Sanchez, Belen
Ramirez, Mario
Rossen, John
Couto, Natacha
Novais, Angela
Howden, Benjamin P.
Brisse, Sylvain
Reuter, Sandra
Nolte, Oliver
Egli, Adrian
Seth-Smith, Helena M. B.
[J]. PEERJ, 2024, 12
[6] DEVELOPING BEST PRACTICES FOR MANAGING TREATMENT SWITCHING IN THE DESIGN, CONDUCT, ANALYSIS, AND REPORTING OF ONCOLOGY DRUG CLINICAL TRIALS
Conley, R. B.
Al Naber, J.
Messner, D. A.
Henshall, C.
Huang, C.
Rosner, G. L.
[J]. VALUE IN HEALTH, 2016, 19 (03) : A102 - A102

← 1 →