Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders-Reference-Cited by-同舟云学术

Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders

Published:2019 Issue:3 Volume:62 Page:244-252
ISSN:1346-8049
Container-title:Yonago Acta Medica
language:en
Short-container-title:Yonago Acta Med.

Author:

Ebiki Mitsutaka¹²,Okazaki Tetsuya³⁴,Kai Masachika⁵,Adachi Kaori⁶,Nanba Eiji⁴⁶

Affiliation:

1. The Development of Innovative Future Medical Treatment, Graduate School of Medical Sciences, Tottori University, Yonago 683-8504, Japan

2. KUSUNOKI SCALE INC., Yonago 683-0832, Japan

3. Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan

4. Division of Clinical Genetics, Tottori University Hospital, Yonago 683-8504, Japan, ‖Technical Department, Tottori University, Yonago 683-8503, Japan

5. Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago 683-8503, Japan

6. Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago 683-8503, Japan

Publisher

Tottori University Faculty of Medicine

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/yam/62/3/62_2019.09.001/_pdf

Reference31 articles.

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2. 2. Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med. 2014;6:252ra123. PMID:25186178, DOI:10.1126/scitranslmed.3009262

3. 3. Cooper GM, Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet. 2011;12:628-40. PMID:21850043, DOI:10.1038/nrg3046

4. 4. Jalali Sefid Dashti M, Gamieldien J. A practical guide to filtering and prioritizing genetic variants. Biotechniques. 2017;62:18-30. PMID:28118812, DOI:10.2144/000114492

5. 5. Robinson PN, Krawitz P, Mundlos S. Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet. 2011;80:127-32. PMID:21615730, DOI:10.1111/j.1399-0004.2011.01713.x

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