Reanalysis of Clinical Exome Sequencing Data

Pengfei Liu; Linyan Meng; Elizabeth A. Normand; Fan Xia; Xiaofei Song; Andrew R. Ghazi; Jill A. Rosenfeld; Pilar Magoulas; Alicia Braxton; Patricia A. Ward; Hongzheng Dai; Bo Yuan; Weimin Bi; Rui Xiao; Xia Wang; Theodore Chiang; Francesco Vetrini; Weimin He; Hanyin Cheng; Jie Dong; Charul Gijavanekar; Paul J. Benke; Jonathan A. Bernstein; Tanya N. Eble; Yasemen Eroğlu; Deanna Erwin; Luis Escobar; James B. Gibson; Karen W. Gripp; Soledad Kleppe; Mary Kay Koenig; Andrea M. Lewis; Marvin R. Natowicz; Pedro Mancías; LaKeesha Minor; Fernando Scaglia; Christian P. Schaaf; Haley Streff; Hilary J. Vernon; Crescenda L Uhles; Elaine H. Zackai; Nan Wu; V. Reid Sutton; Arthur L. Beaudet; Donna M. Muzny; Richard A. Gibbs; Jennifer E. Posey; Seema R. Lalani; Chad A. Shaw; Christine M. Eng; James R. Lupski; Yaping Yang

doi:10.1056/nejmc1812033

Reanalysis of Clinical Exome Sequencing Data

Pengfei Liu(Baylor College of Medicine), Linyan Meng(Baylor College of Medicine), Elizabeth A. Normand(Baylor College of Medicine), Fan Xia(Baylor College of Medicine), Xiaofei Song(Baylor College of Medicine), Andrew R. Ghazi(Baylor College of Medicine), Jill A. Rosenfeld(Baylor College of Medicine), Pilar Magoulas(Baylor College of Medicine), Alicia Braxton(Baylor College of Medicine), Patricia A. Ward(Baylor College of Medicine), Hongzheng Dai(Baylor College of Medicine), Bo Yuan(Baylor College of Medicine), Weimin Bi(Baylor College of Medicine), Rui Xiao(Baylor College of Medicine), Xia Wang(Baylor College of Medicine), Theodore Chiang(Baylor College of Medicine), Francesco Vetrini(Baylor Genetics), Weimin He(Baylor Genetics), Hanyin Cheng(Baylor Genetics), Jie Dong(Baylor Genetics), Charul Gijavanekar(Baylor Genetics), Paul J. Benke(Joe DiMaggio Children's Hospital), Jonathan A. Bernstein(Stanford University), Tanya N. Eble(Baylor College of Medicine), Yasemen Eroğlu(Oregon Health & Science University), Deanna Erwin(Baylor College of Medicine), Luis Escobar(Peyton Manning Children’s Hospital at St.Vincent), James B. Gibson(Dell Children's Medical Center of Central Texas), Karen W. Gripp(DuPont (United States)), Soledad Kleppe(Hospital Italiano de Buenos Aires), Mary Kay Koenig(The University of Texas Health Science Center), Andrea M. Lewis(Baylor College of Medicine), Marvin R. Natowicz(Cleveland Clinic), Pedro Mancías(The University of Texas Health Science Center), LaKeesha Minor(The University of Texas Health Science Center), Fernando Scaglia(Baylor College of Medicine), Christian P. Schaaf(Heidelberg University), Haley Streff(Baylor College of Medicine), Hilary J. Vernon(Johns Hopkins University), Crescenda L Uhles(Medical City Children's Hospital), Elaine H. Zackai(Children's Hospital of Philadelphia), Nan Wu(Chinese Academy of Medical Sciences & Peking Union Medical College), V. Reid Sutton(Baylor College of Medicine), Arthur L. Beaudet(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine), Seema R. Lalani(Baylor College of Medicine), Chad A. Shaw(Baylor College of Medicine), Christine M. Eng(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Yaping Yang(Baylor College of Medicine)

New England Journal of Medicine

June 19, 2019

10.1056/nejmc1812033

Cited by 297Open Access

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Abstract

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...

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