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Genetic variant
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#	Item
1	Exercise A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C. (a) What are the prote Add to Reading List Source URL: ftp.ebi.ac.uk Language: English - Date: 2018-03-06 08:50:01
2	16p11.2 Deletion Fact Sheet What does it mean to have a 16p11.2 Deletion? A 16p11.2 deletion is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or extra Add to Reading List Source URL: simonsvipconnect.org Language: English - Date: 2016-08-22 00:29:40
3	1q21.1 Duplication Fact Sheet What does it mean to have a 1q21.1 Duplication? A 1q21.1 duplication is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or Add to Reading List Source URL: simonsvipconnect.org Language: English - Date: 2016-08-22 00:29:40
4	Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics - Draft Guidance for Stakeholders and Food and Drug Administration Staff Add to Reading List Source URL: www.fda.gov Language: English Biological databases Genomics Biology Bioinformatics Molecular biology Pharmacology GeneTalk
5	Variant Calling with R/Bioconductor Michael Lawrence July 28, 2014 Outline Add to Reading List Source URL: bioconductor.org Language: English - Date: 2014-07-28 17:39:34 Biology Genetics Bioinformatics Genetic genealogy Population genetics Biotechnology DNA FASTQ format Haplotype Genotype Single-nucleotide polymorphism ChIP-sequencing
6	Variant Visualization:19 PM IRF2BP2 (NM_001077397) Gene Search: Add to Reading List Source URL: www.cs.ubc.ca Language: English - Date: 2013-08-01 22:03:39 Genomics Biological databases Genetics Genetic mapping Bioinformatics Genome browser Human genome ENCODE Genome Human Genome Project Gene UCSC Genome Browser
7	Rare Variant Burden Tests Add to Reading List Source URL: genome.sph.umich.edu Language: English - Date: 2012-11-28 13:58:36 Biology Genetics Molecular biology Genetic genealogy Population genetics Classical genetics Rare functional variant Single-nucleotide polymorphism Exome sequencing Gene Genomes Project Heritability
8	Press release: August 12, 2009 X chromosomal genetic variant delays progression to AIDS in HIV-infected women After infection with HIV, the destruction of the immune system and the subsequent development of AIDS symptom Add to Reading List Source URL: genome.imb-jena.de Language: English - Date: 2009-08-14 05:54:56
9	Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus Add to Reading List Source URL: genome.imb-jena.de Language: English - Date: 2014-01-20 08:45:06

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