Open AccessIn Silico Functional Annotation of Genomic Variation
Author(s) -
Butkiewicz Mariusz,
Bush William S.
Publication year - 2016
Publication title -
current protocols in human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.282
H-Index - 30
eISSN - 1934-8258
pISSN - 1934-8266
DOI - 10.1002/0471142905.hg0615s88
Subject(s) - annotation , in silico , computational biology , context (archaeology) , human genome , genome , exome , function (biology) , biology , genomics , human genetic variation , exome sequencing , computer science , gene , genetics , mutation , paleontology
This unit describes the concepts and practical techniques for annotating genomic variants in the human genome to estimate their functional significance. With the rapid increase of available whole exome and whole genome sequencing information for human studies, annotation techniques have become progressively more important for highlighting and prioritizing nucleotide variants and their potential impact on genes and other genetic constructs. Here, we present an overview of different types of variant annotation approaches and elaborate on their foundations, assumptions, and the downstream consequences of their use. Computational approaches and tools to assign annotations and to identify variants are reviewed. Further, the general philosophy of assigning potential function to a genetic change within the biological context of a disease is discussed. © 2016 by John Wiley & Sons, Inc.