EFTA00315100Set 9
14p13,437w
similar to the current cost of commercial diagnostic dideoxy sequencing bioinformatics-based gene-variant characterization and clinical inter-
of two or three disease genes. Within the context of the average ... promising for emergency use in level 3 NICUs. sequence alignment, and gene variant calling took —15 hours. The HiSeq .o
2500 runs yielded 121 to 139 gigabases (GB) of aligned ... reference genome se-
icopathological correlation tool that maps the clinical features of 591 quence (variants) (mean ± SD) in nine samples, one from each of nine E
well-established, recessive genetic
https://www.justice.gov/epstein/files/DataSet%209/EFTA00315100.pdf
EFTA01140242Set 9
2013-08-2714p12,142w
used for Results
researching the causes of genetic disorders. However, its useful- Categories of Variants to Report to Patients. Variants obtained
ness in clinical practice for medical diagnosis ... this report, we demonstrate the value of NGS for three categories. Our first variant category consists of variants
genetic risk assessment and evaluate the limitations and barriers identified ... genomic DNA using
disease risk. exome sequencing. We detected 65,582 unique nonsyttonymous
coding variants (nscv). Every nscv was interrogated for human
molecular medicine I disease prediction I whole exome
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140242.pdf