Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics-Reference-Cited by-同舟云学术

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Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics

Published:2023-07-19 Issue:8 Volume:23 Page:723-727
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Abdallah Mohammed O. E.¹²^ORCID,Koko Mahmoud³^ORCID,Ramesar Raj²

Affiliation:

1. Division of Human Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada

2. MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa

3. Department of Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

Funder

not funded

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/14737159.2023.2237411

Reference26 articles.

1. Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis

2. Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

3. NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

4. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

5. GENCODE reference annotation for the human and mouse genomes

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