PPT-CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

No phenotype or inheritance information provided Note These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set no single CNV will necessarily cover all evidence types  These are not actual CNVs that have been observed in a laboratory setting  As such please evaluate the coordinates as given regardless of other considerations that may apply in the actual clinical laboratory setting  For example if your CNV is below the size cutoff your laboratory uses on a daily basis please disregard this for the sake of this exercise and evaluate the content within the provided coordinates Assume that the CNV is technically valid. Introduction to Systems Biology Course. Chris . Plaisier. Institute for Systems Biology. Glioma. : . A Deadly Brain Cancer. Wikimedia commons. miRNAs in Cancer. Caldas et al., 2005. RISC. Utility of miRNAs in Cancer. V.A. Schneider, P. Flicek, T. Graves, T. Hubbard & D.M. Church for. the Genome Reference Consortium. http://genomereference.org. @GenomeRef. GRCh37.p13 Assembly Statistics. The GRCh38 human . reference assembly . dn. ). 5-year-old female with developmental delay; . de novo. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (1379519_1435227)x1. 2-month-old female with unilateral renal agenesis; inheritance unknown. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (68797032_68846703) x3 . 35-year-old male with gastric cancer. Additional studies have proven that the duplication is in tandem.. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. Grand . Rounds. The Masquerade Spot. CC. Annual follow up. HPI. 56 . yo. female . with history of Rosai-Dorfman . disease who presents for annual follow up for suspicious choroidal lesions OU (first discovered ~10 years ago). No change in vision. (13029888-14707559)x3. No phenotype or inheritance information provided. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (8952198_9486394)x3 . dn. 7-year-old male with lissencephaly. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (12864101_14983330)x1. 2 year old male with developmental delay and seizures. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 200 micrometers from the foveal avascular zone) 18. b)subfoveal CNV 19. c)juxtafoveal CNV ( 200 micrometers from the foveal avascular zone) 20. 5)In contrast to POHS, the following clinical features a Matthew Gorski, MD SUNY Downstate Medical Center December 15, 2011 History • 60 year old Caucasian woman presents with blurry vision x 20 years OU. No acute change. Happy with near vision. States (175816894_177834521)x3 mat. 6-year-old male with autism; mother unaffected. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 2-month-old female with Tetralogy of Fallot; inheritance unknown. Clinical information. arr. [GRCh37] 19p13.11(18291753_18311626) x3 . 2-month-old female with Tetralogy of Fallot. Inheritance information not available. Mb. )(. GRCh37. ). Figure E1. Seattle Cohort. REL. CNBP. BHLHE40. BHLHE40. rs1177206. rs34695944. rs2901182. rs842634. rs191290298. rs13019590. rs1177211. rs6808127. rs11922612. rs1514453. rs18929425.