1![](/pdf-icon.png) | Add to Reading ListSource URL: ftp.ebi.ac.ukLanguage: 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 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](https://www.pdfsearch.io/img/0d5a103aca8bf51effa2d059cd405e89.jpg) | Add to Reading ListSource URL: simonsvipconnect.orgLanguage: 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 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](https://www.pdfsearch.io/img/c401c6e53663d0bce99a2bd4ef8e4f7c.jpg) | Add to Reading ListSource URL: simonsvipconnect.orgLanguage: 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Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics - Draft Guidance for Stakeholders and Food and Drug Administration Staff Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics - Draft Guidance for Stakeholders and Food and Drug Administration Staff](https://www.pdfsearch.io/img/7c3b69b3a028417101239e44bb35feb4.jpg) | Add to Reading ListSource URL: www.fda.govLanguage: English |
---|
5![Variant Calling with R/Bioconductor Michael Lawrence July 28, 2014
Outline Variant Calling with R/Bioconductor Michael Lawrence July 28, 2014
Outline](https://www.pdfsearch.io/img/6ae960823c5f53847e1a96316fe076ff.jpg) | Add to Reading ListSource URL: bioconductor.orgLanguage: English - Date: 2014-07-28 17:39:34
|
---|
6![Variant Visualization:19 PM IRF2BP2 (NM_001077397) Gene Search: Variant Visualization:19 PM IRF2BP2 (NM_001077397) Gene Search:](https://www.pdfsearch.io/img/1d6ec11ab82aa66c785b1db8622e5d80.jpg) | Add to Reading ListSource URL: www.cs.ubc.caLanguage: English - Date: 2013-08-01 22:03:39
|
---|
7![Rare Variant Burden Tests Rare Variant Burden Tests](https://www.pdfsearch.io/img/4f7e1cd95ce4f7ae1486f59b2c155c24.jpg) | Add to Reading ListSource URL: genome.sph.umich.eduLanguage: English - Date: 2012-11-28 13:58:36
|
---|
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 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](https://www.pdfsearch.io/img/ff2107ee7c70fd5a9b711c7d86386c83.jpg) | Add to Reading ListSource URL: genome.imb-jena.deLanguage: 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 Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus](https://www.pdfsearch.io/img/cd89c17f0324dd20637867405e752382.jpg) | Add to Reading ListSource URL: genome.imb-jena.deLanguage: English - Date: 2014-01-20 08:45:06
|
---|