In Silico Functional Annotation of Genomic Variation.
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ABSTRACT:
SUBMITTER: Butkiewicz M
PROVIDER: S-EPMC4722816 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Publications
In Silico Functional Annotation of Genomic Variation.
Butkiewicz Mariusz M Bush William S WS
Current protocols in human genetics 20160101
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 varia ...[more]
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