Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
About this item
Full title
Author / Creator
Abul-Husn, Noura S. , Manickam, Kandamurugu , Jones, Laney K. , Wright, Eric A. , Hartzel, Dustin N. , Gonzaga-Jauregui, Claudia , O'Dushlaine, Colm , Leader, Joseph B. , Kirchner, H. Lester , Lindbuchler, D'Andra M. , Barr, Marci L. , Giovanni, Monica A. , Ritchie, Marylyn D. , Overton, John D. , Reid, Jeffrey G. , Metpally, Raghu P. R. , Wardeh, Amr H. , Borecki, Ingrid B. , Yancopoulos, George D. , Baras, Aris , Shuldiner, Alan R. , Gottesman, Omri , Ledbetter, David H. , Carey, David J. , Dewey, Frederick E. and Murray, Michael F.
Publisher
United States: American Association for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Association for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their electronic health records. Dewey
et al.
found that ∼3.5% of individuals in their cohort had clinically actionable genetic variants. Many of t...
Alternative Titles
Full title
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Authors, Artists and Contributors
Author / Creator
Manickam, Kandamurugu
Jones, Laney K.
Wright, Eric A.
Hartzel, Dustin N.
Gonzaga-Jauregui, Claudia
O'Dushlaine, Colm
Leader, Joseph B.
Kirchner, H. Lester
Lindbuchler, D'Andra M.
Barr, Marci L.
Giovanni, Monica A.
Ritchie, Marylyn D.
Overton, John D.
Reid, Jeffrey G.
Metpally, Raghu P. R.
Wardeh, Amr H.
Borecki, Ingrid B.
Yancopoulos, George D.
Baras, Aris
Shuldiner, Alan R.
Gottesman, Omri
Ledbetter, David H.
Carey, David J.
Dewey, Frederick E.
Murray, Michael F.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1879988041
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1879988041
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.aaf7000
