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Article

In Silico Functional Annotation of Genomic Variation.

Current protocols in human genetics - 1 Jan 2016

Butkiewicz Mariusz, Bush William S

Abstract excerpt

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...

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Identifiers

PMID: 26724722
DOI: 10.1002/0471142905.hg0615s88
PMCID: PMC4722816

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