A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1479-7364

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets ; volume:11 ; number:1 ; day:22 ; month:5 ; year:2017 ; pages:1-11 ; date:12.2017
Human genomics ; 11, Heft 1 (22.5.2017), 1-11, 12.2017

Creator: Requena, Teresa

Contributor: Gallego-Martinez, Alvaro
Lopez-Escamez, Jose A.
SpringerLink (Online service)

DOI: 10.1186/s40246-017-0107-5

URN: urn:nbn:de:1111-2017053110570

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:31 AM CEST

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Requena, Teresa
Gallego-Martinez, Alvaro
Lopez-Escamez, Jose A.
SpringerLink (Online service)

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A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

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Other Objects (12)

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies

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Implementation of ensemble machine learning algorithms on exome datasets for predicting early diagnosis of cancers

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Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

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Prioritizing river basins for nutrient studies

FORGe: prioritizing variants for graph genomes

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