In Silico Functional Annotation of Genomic Variation.

In Silico Functional Annotation of Genomic Variation.
Curr Protoc Hum Genet. 2016;88:6.15.1-6.15.17
Authors: Butkiewicz M, Bush WS
Abstract
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.
PMID: 26724722 [PubMed - in process]

Source: Current Protocols in Human Genetics - January 11, 2016 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research