Better prediction of functional effects for sequence variants

Maximilian Hecht; Yana Bromberg; Burkhard Rost

doi:10.1186/1471-2164-16-S8-S1

Better prediction of functional effects for sequence variants

Maximilian Hecht
, Yana Bromberg
, Burkhard Rost

Informatics 12 - Chair of Bioinformatics

Technical University of Munich
Rutgers University–New Brunswick

Research output: Contribution to journal › Article › peer-review

459 Scopus citations

Abstract

Definitions used: Delta, input feature that results from computing the difference feature scores for native amino acid and feature scores for variant amino acid; nsSNP, non-synoymous SNP; PMD, Protein Mutant Database; SNAP, Screening for non-acceptable polymorphisms; SNP, single nucleotide polymorphism; variant, any amino acid changing sequence variant.

Original language	English
Article number	S1
Journal	BMC Genomics
Volume	16
Issue number	8
DOIs	https://doi.org/10.1186/1471-2164-16-S8-S1
State	Published - 18 Jun 2015

Keywords

From sequence
Functional effect prediction
Neural network
SNP effect
Variant effect

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10.1186/1471-2164-16-S8-S1

Cite this

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title = "Better prediction of functional effects for sequence variants",

abstract = "Definitions used: Delta, input feature that results from computing the difference feature scores for native amino acid and feature scores for variant amino acid; nsSNP, non-synoymous SNP; PMD, Protein Mutant Database; SNAP, Screening for non-acceptable polymorphisms; SNP, single nucleotide polymorphism; variant, any amino acid changing sequence variant.",

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AU - Hecht, Maximilian

AU - Bromberg, Yana

AU - Rost, Burkhard

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AB - Definitions used: Delta, input feature that results from computing the difference feature scores for native amino acid and feature scores for variant amino acid; nsSNP, non-synoymous SNP; PMD, Protein Mutant Database; SNAP, Screening for non-acceptable polymorphisms; SNP, single nucleotide polymorphism; variant, any amino acid changing sequence variant.

KW - From sequence

KW - Functional effect prediction

KW - Neural network

KW - SNP effect

KW - Variant effect

UR - https://www.scopus.com/pages/publications/84969256031

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DO - 10.1186/1471-2164-16-S8-S1

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Better prediction of functional effects for sequence variants

Abstract

Keywords

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