TY  - GEN
N2  - While 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.
DO  - 10.6083/0r967446x
DO  - DOI
AB  - While 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.
T1  - Discovering and interpreting genetic variation in neurological disorders
DA  - 2020
AU  - Mighell, Taylor L.
L1  - https://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
PB  - Oregon Health and Science University
PY  - 2020
ID  - 8464
L4  - https://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
KW  - Autistic Disorder
KW  - Nervous System Diseases
KW  - medical genetics
KW  - cancer
TI  - Discovering and interpreting genetic variation in neurological disorders
Y1  - 2020
L2  - https://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
LK  - https://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
UR  - https://digitalcollections.ohsu.edu/record/8464/files/Mighell.Taylor.2020.pdf
ER  -