000008464 001__ 8464
000008464 005__ 20240124114302.0
000008464 0247_ $$2DOI$$a10.6083/0r967446x
000008464 037__ $$aETD
000008464 245__ $$aDiscovering and interpreting genetic variation in neurological disorders
000008464 260__ $$bOregon Health and Science University
000008464 269__ $$a2020
000008464 336__ $$aDissertation
000008464 502__ $$bPh.D.
000008464 520__ $$aWhile recent advances in DNA sequencing have revolutionized clinical genetics, substantial challenges remain. Among the most pressing challenges are reliably and affordably discovering disease-causing variation in patients, and accurately interpreting the functional effects of detected variation. It is now possible to sequence whole human genomes in a matter of days, and at a cost of thousands of dollars. As a result, there has been a staggering accumulation of sequence data from healthy and affected individuals. However, we currently lack generally applicable methods for interpreting the functional consequences of variation. As long as this problem remains unsolved, we will be unable to realize the full potential of constantly advancing DNA sequencing technologies.
000008464 542__ $$fIn copyright - single owner
000008464 650__ $$aAutistic Disorder$$015231
000008464 650__ $$aNervous System Diseases$$022809
000008464 6531_ $$amedical genetics
000008464 6531_ $$acancer
000008464 691__ $$aSchool of Medicine$$041369
000008464 692__ $$aDepartment of Molecular and Medical Genetics$$041428
000008464 7001_ $$aMighell, Taylor L.
000008464 8564_ $$9de0f9e31-773b-4ce4-b50f-a603d0baac96$$s8620124$$uhttps://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
000008464 905__ $$a/rest/prod/0r/96/74/46/0r967446x
000008464 909CO $$ooai:digitalcollections.ohsu.edu:8464$$pstudent-work
000008464 980__ $$aTheses and Dissertations