Visual inspection reveals a novel pathogenic mutation in<i>PKD1</i>missed by the variant caller in whole‑exome sequencing-Reference-Cited by-同舟云学术

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Visual inspection reveals a novel pathogenic mutation inPKD1missed by the variant caller in whole‑exome sequencing

Published:2022-10-24 Issue:6 Volume:26 Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Rep

Author:

Koay Bee¹,Chiow Mei²,Ismail Jamiila¹,Fahmy Norfarhana¹,Yee Seow³,Mustafa Norhazlin¹,Arip Masita¹,Ripen Adiratna¹,Mohamad Saharuddin²

Affiliation:

1. Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam, Selangor 40170, Malaysia

2. Institute of Biological Sciences, Faculty of Science, Universiti Malaya, Kuala Lumpur 50603, Malaysia

3. Nephrology Department, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur 50586, Malaysia

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference46 articles.

1. Advancing personalized medicine through the application of whole exome sequencing and big data analytics;Suwinski;Front Genet,2019

2. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature;Schwarze;Genet Med,2018

3. Analysis of error profiles in deep next-generation sequencing data;Ma;Genome Biol,2019

4. Variant review with the integrative genomics viewer;Robinson;Cancer Res,2017

5. Best practices for variant calling in clinical sequencing;Koboldt;Genome Med,2020

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