1. Variant calling while accounting for alternate haplotypes Aaron Quinlan University of Virginia ! quinlanlab.org Genome Reference Consortium Workshop Sept 21, 2014 2. Motivation:…

Can view other patients Can view other patients Also search Pubmed, google, etc 2 Interpretation depends on⦠Size Location Genes involved Previously reported patients…

1. ..1.,.. (495) 660-83-77,« .26» 2. CNVs CNPs. 3. >20. >9FISHSNP CNV(> 1 kb).CNPMLPA STR. ..(>500 000).. 4. (42) CNV Ahn et al 20094773Altshuler_et_al_2010…

What are the characteristics or complications? DiGeorge Syndrome (DGS) is a particular group of clinical features that frequently occur together as a result of a chromosomal

ORIGINAL RESEARCH PEDIATRICS Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome J.E. Schmitt, J.J. Yi, D.R. Roalf, L.A. Loevner, K. Ruparel, D. Whinna, M.C.