Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jamila S. Wynter"'
Autor:
James C. Mullikin, Peter D. Stenson, Fabio Candotti, Wadih M. Zein, Jamila S. Wynter, Steven Gonsalves, Jennifer J. Johnston, Benjamin D. Solomon, Heidi H. Kong, Robert A. Sokolic, Katie L. Lewis, Suzanne Hart, Brian P. Brooks, Isaac Brownell, Carmen C. Brewer, David Neil Cooper, Larry N. Singh, Leslie G. Biesecker, David Ng, Kristina I. Rother
Publikováno v:
The American Journal of Human Genetics. 96:913-925
Next-generation sequencing provides the opportunity to practice predictive medicine based on identified variants. Putative loss-of-function (pLOF) variants are common in genomes and understanding their contribution to disease is critical for predicti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86853cacd1a3ff9c131a15c41d2fab50
https://doi.org/10.1016/j.ajhg.2015.04.013
https://doi.org/10.1016/j.ajhg.2015.04.013
Autor:
Jamila S. Wynter, Leslie G. Biesecker, Larry N. Singh, James C. Mullikin, David Neil Cooper, David Ng, Jennifer J. Johnston, Lindsey C. Peller, Jamie K. Teer, Katie L. Lewis, Peter D. Stenson
Publikováno v:
Circulation: Cardiovascular Genetics. 6:337-346
Background— Massively parallel sequencing to identify rare variants is widely practiced in medical research and in the clinic. Genome and exome sequencing can identify the genetic cause of a disease (primary results), but it can also identify patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e139a30f21d34de60ee243b857c3f6a
https://doi.org/10.1161/circgenetics.113.000039
https://doi.org/10.1161/circgenetics.113.000039