FMFilter: A fast model based variant filtering tool-Reference-Cited by-同舟云学术

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FMFilter: A fast model based variant filtering tool

Published:2016-04 Issue: Volume:60 Page:319-327
ISSN:1532-0464
Container-title:Journal of Biomedical Informatics
language:en
Short-container-title:Journal of Biomedical Informatics

Author:

Akgün Mete,Faruk Gerdan Ö.,Görmez Zeliha,Demirci Hüseyin

Funder

Republic of Turkey Ministry of Development Infrastructure

The Scientific and Technological Research Council of Turkey

Publisher

Elsevier BV

Subject

Health Informatics,Computer Science Applications

Reference15 articles.

1. VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer;Teer;Bioinformatics,2012

2. GEMINI: integrative exploration of genetic variation and genome annotations;Paila;PLoS Comput. Biol.,2013

3. Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees;Kamphans;PLoS ONE,2013

4. CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects;Ameur;Database,2014

5. exomeSuite: whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels;Maranhao;Genomics,2014

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1. Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder;Molecular Biology Reports;2021-01

2. Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance;Frontiers in Genetics;2020-10-23

3. A novel homozygous nonsense mutation in CAST associated with PLACK syndrome;Cell and Tissue Research;2019-08-07

4. A further family of Stromme syndrome carrying CENPF mutation;American Journal of Medical Genetics Part A;2017-04-13

5. How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era;Human Mutation;2016-09-26

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