{"id":1936,"date":"2020-07-09T21:40:00","date_gmt":"2020-07-10T01:40:00","guid":{"rendered":"https:\/\/nebula.org\/blog\/?p=1936"},"modified":"2021-04-16T18:17:50","modified_gmt":"2021-04-16T22:17:50","slug":"clinvar-tutorial","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/clinvar-tutorial\/","title":{"rendered":"How to use ClinVar – A Tutorial for Beginners"},"content":{"rendered":"\n

What is ClinVar?<\/strong><\/h2>\n\n\n\n

For many people, getting their genome sequenced is the start of an exciting journey. Often, though, people are left unsure of where to begin their exploration of their DNA data. To learn how genetics affects health, a tool called ClinVar can be extremely useful. But, how exactly does this tool work? This tutorial will teach you!<\/p>\n\n\n\n

Are you interested in discovering ALL genetic variants in your DNA to get most of the tools like ClinVar? Nebula Genomics offers Whole Genome Sequencing for only $299! Click here to learn more!<\/a><\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

The 99.9 percent<\/h2>\n\n\n\n

The human genome is made up of roughly 3 billion letters spread across 23 pairs of chromosomes. Together, these letters (also known as nucleotides) act as an instruction manual to determine our traits. From an individual\u2019s hair color to their risk of heart disease<\/a>, the genome contains the recipe that makes each person unique.\u00a0<\/p>\n\n\n\n

Randomly pick 2 people, and they likely have many more differences than similarities. One may be tall, need glasses, has a family history of breast cancer and hates the taste of cilantro. The other has red hair, is lactose intolerant, and has always been a straight-A student. <\/p>\n\n\n\n

While these two people may seem nothing alike, they still share 99.9% of the same letters in their genomes. All of the variation between two random individuals, from their appearance to their disease risks, stems from differences in only 0.1% (or 3 million) of the letters in the genome!<\/p>\n\n\n\n

The 0.1 percent<\/h2>\n\n\n\n

The letters of the genome that can be different between individuals are known as single nucleotide polymorphisms, or SNPs (pronounced \u201csnips\u201d). For example, a SNP is present if the majority of individuals have the letter \u201cC\u201d at a specific spot in the genome while a minority has a \u201cT\u201d instead. This SNP would be said to have 2 possible variants, or \u201calleles\u201d: C and T.<\/p>\n\n\n\n

Scientists estimate that there are potentially up to 100 million SNPs across the genome. Many of these SNPs occur within genes, the DNA sequences that act as instructions for making proteins, molecular machines that perform various tasks in and outside cells. Many more SNPs, though, occur outside of these regions, in the so-called \u201cjunk DNA\u201d<\/a>. Despite its name, this DNA comprises around 99% of our genome\u2019s information, and scientists continue to discover more and more about its importance for our health.<\/p>\n\n\n\n

Regardless, identifying SNPs is a key step in understanding personal genomic data. Some SNPs can have a powerful effect on an individual\u2019s susceptibility to a certain disease. For example, consider Alzheimer\u2019s disease. A particular SNP in the APOE<\/a> gene increases a person\u2019s risk of developing Alzheimer\u2019s disease by more than 20-fold<\/a>! <\/p>\n\n\n\n

With advances in genetic testing technologies lowering the cost of sequencing a human genome, more and more people are taking the leap to learn about themselves through their DNA. Some genetic testing companies give their users access to their raw DNA files, to enable them to explore their data on their own. Though this empowers users, it can simultaneously be quite daunting. Most people are not very familiar with human genetics and various data analysis tools. In particular, given millions of SNPs, many users understandably don\u2019t know how to learn what they mean. <\/p>\n\n\n\n

Are you interested in discovering ALL genetic variants in your DNA to get most of tools like ClinVar? Nebula Genomics offers Whole Genome Sequencing for only $299! Click here to learn more!<\/p>\n\n\n\n

How to use ClinVar<\/strong><\/h2>\n\n\n\n

One of the most helpful tools to learn more about what your SNPs might mean for health is ClinVar.<\/a> It is a freely accessible public archive that aims to catalog relationships between genetic variants and their impact on health status. <\/p>\n\n\n\n

ClinVar is run by the National Institutes of Health in the United States. It works as a central, public database for researchers and medical professionals to deposit information about clinically relevant SNPs. For example, if a new scientific study is published linking a genetic variant to a particular disease, this information can be submitted to ClinVar. <\/p>\n\n\n\n

Though ClinVar is powerful, it can oftentimes seem unwieldy and difficult to navigate. Learning how to effectively search through the site can unlock tons of additional information from your genome data.<\/p>\n\n\n\n

At its core, you can search through ClinVar using any of 3 different pieces of information. These are:<\/p>\n\n\n\n