Publications
Export 2 results:
Filters: Keyword is DNA Copy Number Variations and Author is Shaw, Chad [Clear All Filters]
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 ;22(10):1633-1641.
. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
.