Open AccessExome Sequencing in Suspected Monogenic Dyslipidemias
Author(s) -
Nathan O. Stitziel,
Gina M. Peloso,
Marianne Abifadel,
Angelo B. Cefalù,
Sigrid W. Fouchier,
Mohammad Mahdi Motazacker,
Hayato Tada,
Daniel B. Larach,
Zuhier Awan,
Jorge F. Haller,
Clive R. Pullinger,
Mathilde Varret,
JeanPierre Rabès,
Davide Noto,
Patrizia Tarugi,
Masa-aki Kawashiri,
Atsushi Nohara,
Masakazu Yamagishi,
Marjorie Risman,
Rahul C. Deo,
Isabelle L. Ruel,
Jay Shendure,
Deborah A. Nickerson,
James G. Wilson,
Stephen S. Rich,
Namrata Gupta,
Deborah Farlow,
Benjamin M. Neale,
Mark Daly,
John P. Kane,
Mason W. Freeman,
Jacques Genest,
Daniel J. Rader,
Hiroshi Mabuchi,
John J.P. Kastelein,
G. Kees Hovingh,
Maurizio Averna,
Stacey Gabriel,
Cathérine Boileau,
Sekar Kathiresan
Publication year - 2015
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.114.000776
Subject(s) - exome sequencing , exome , medicine , genetics , computational biology , biology , mutation , gene
Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.
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