VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss-Reference-Cited by-同舟云学术

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VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss

Published:2021-09-02 Issue:12 Volume:42 Page:1567-1575
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Peng Jiguang¹^ORCID,Xiang Jiale¹²³^ORCID,Jin Xiangqian¹⁴,Meng Junhua¹,Song Nana¹,Chen Lisha¹³,Abou Tayoun Ahmad⁵⁶^ORCID,Peng Zhiyu¹²^ORCID

Affiliation:

1. BGI Genomics BGI‐Shenzhen Shenzhen China

2. College of Life Sciences University of Chinese Academy of Sciences Beijing China

3. BGI Education Center University of Chinese Academy of Sciences Shenzhen China

4. Department of Biotechnology and Biomedicine Technical University of Denmark Kongens Lyngby Denmark

5. Al Jalila Genomics Center Al Jalila Children's Specialty Hospital Dubai United Arab Emirates

6. Center for Genomic Discovery Mohammed Bin Rashid University of Medicine and Health Sciences Dubai United Arab Emirates

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24277

Reference41 articles.

1. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

3. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

4. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

5. Tandem repeats finder: a program to analyze DNA sequences

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1. A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A;Human Molecular Genetics;2022-12-15

2. HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection;Genetics in Medicine;2022-12

3. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss;Human Genetics;2022-09-01

4. Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss;BMC Medical Genomics;2022-06-27

5. Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss;BMC Medical Genomics;2022-06-17

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