Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

Kyle RettererJulie ScuffinsDaniel SchmidtRachel LewisDaniel Pineda-AlvarezAmanda StaffordLindsay SchmidtStephanie WarrenFederica GibelliniAnastasia KondakovaAmanda BlairSherri BaleLudmila MatyakhinaJeanne MeckSwaroop AradhyaEden Haverfield

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)

These results demonstrate the clinical utility of single-exon resolution in CNV assays. Our whole-exome sequencing algorithm approaches this resolution but is complemented by a whole-exome array to unambiguously identify intragenic CNVs and single-exon changes. These data illustrate the next advancements in CNV analysis through whole-exome sequencing and whole-exome array.Genet Med 17 8, 623-629.

Keyphrases

copy number
mitochondrial dna
high throughput
genome wide
high resolution
dna methylation
single molecule
machine learning
high density
single cell
electronic health record
gene expression
neural network