Genotyping and sequencing are two methods of reading DNA. Your genome consists of three billion base pairs, each of which is represented by one letter.
Genotyping is an older technology that takes a snapshot only of specific single letters in the book. These single letters are predefined based on common typos in the genome. If you imagine that your DNA is like a book, there might be a common typo on page 12, sentence 17, letter 4, and genotyping would look there only. Because of this limitation, genotyping is static.If you decide you want to look at another place, you have to run another experiment. In addition, genotyping can only resolve single-letter typos, and does not see any errors in words or sentences. Common genotyping technologies read approximately 750,000 single letters—a small fraction of the 3 billion total letters in the genome.
In contrast, by sequencing, Helix reads base pairs in order (like reading an entire sentence, paragraph, or chapter). By comparing your letters to a reference sequence, Helix can determine which letters are different. The places you are different are called “variation” and this is what makes you unique. Variation can be typos in single letters, or can be differences in entire words, sentences, paragraphs, or even pages. With sequencing, you are capturing all the words on all the pages and can flip through and find what you are looking for, even if you didn’t know what you wanted when you started. Sequencing can also read hundreds of times more data than is possible in genotyping. For example, Helix’s Exome+ technology reads approximately 100,000,000 letters, including every letter of every protein-coding gene. Because of this, sequencing is more comprehensive than genotyping and is generally the highest standard for DNA applications.
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