TY - CHAP M1 - Book, Section TI - The Genetic Basis of Disease A1 - McCarthy, Jeanette J. A1 - Mendelsohn, Bryce A. PY - 2016 T2 - Precision Medicine: A Guide to Genomics in Clinical Practice AB - The average human has approximately 4 million germline variants, that is, positions in their genome that differ from the reference genome (see Appendix 2 for a discussion of the reference genome). For the most part, this variation is not harmful and makes us distinct individuals, but some variants have been linked to diseases and health-related traits. The presence of some disease-causing variants means a high degree of certainty that the person with the variant will develop the disease. This is true for so-called Mendelian diseases. For other disease-causing variants, the relationship with disease is complex and the variants not very predictive of disease. Establishing the relationship between a genetic variant and disease is accomplished through different research methods. Mendelian and complex diseases differ in terms of the location of disease-causing variants, their frequency in the population, their penetrance, and their utility as diagnostic/predisposition tests. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1134734837 ER -