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. 2013 Oct 21;42(Database issue):D993–D1000. doi: 10.1093/nar/gkt937

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© The Author(s) 2013. Published by Oxford University Press.

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Figure 1. — Discovering clusters of patients with a 6q25.3 deletion involved with intellectual disability. Search in DECIPHER for 6q25.3 identified patient 250481 with a 9.5-Mb deletion in 6q25.3. (A) Interactive visualization of genes overlapping deletion in patient 250481 and other patients that have similar deletions in 6q25.3 in DECIPHER and ISCA (17) databases. Overlapping genes are coloured by their propensity to display haploinsufficiency (18). (B) Prioritizing genes affected by a deletion event in patient 250481. List of all affected genes with associated properties. At least three genes have OMIM Morbid entries and are present in the curated list of genes known to be involved in developmental disorders (DDG2P). (C) Identifying other patients with shared phenotypes. Details of overlapping patients with shared phenotypes are highlighted in bold. Most patients appear to display intellectual disability and have a common overlap (see boxed area in Figure 1A) on ARID1B. (D) Gene ARID1B entry in the DDG2P database. Deletions affecting this gene are a cause of intellectual disability.

Figure 1. — Discovering clusters of patients with a 6q25.3 deletion involved with intellectual disability. Search in DECIPHER for 6q25.3 identified patient 250481 with a 9.5-Mb deletion in 6q25.3. (A) Interactive visualization of genes overlapping deletion in patient 250481 and other patients that have similar deletions in 6q25.3 in DECIPHER and ISCA (17) databases. Overlapping genes are coloured by their propensity to display haploinsufficiency (18). (B) Prioritizing genes affected by a deletion event in patient 250481. List of all affected genes with associated properties. At least three genes have OMIM Morbid entries and are present in the curated list of genes known to be involved in developmental disorders (DDG2P). (C) Identifying other patients with shared phenotypes. Details of overlapping patients with shared phenotypes are highlighted in bold. Most patients appear to display intellectual disability and have a common overlap (see boxed area in Figure 1A) on ARID1B. (D) Gene ARID1B entry in the DDG2P database. Deletions affecting this gene are a cause of intellectual disability.