Long‐read sequencing for molecular diagnostics in constitutional genetic disorders-Reference-Cited by-同舟云学术

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Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

Published:2022-09-18 Issue:11 Volume:43 Page:1531-1544
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Conlin Laura K.¹²,Aref‐Eshghi Erfan¹,McEldrew Deborah A.¹,Luo Minjie¹²^ORCID,Rajagopalan Ramakrishnan¹²^ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Pathology and Laboratory Medicine, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

Funder

National Human Genome Research Institute

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24465

Reference71 articles.

1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

2. Opportunities and challenges in long-read sequencing data analysis

3. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

4. Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

5. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

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1. Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing;2024-08-30

2. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection;2024-08-22

3. Potential clinical applications of advanced genomic analysis in cerebral palsy;eBioMedicine;2024-08

4. Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders;Annals of Pediatric Endocrinology & Metabolism;2024-06-30

5. CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing;The Journal of Clinical Endocrinology & Metabolism;2024-06-27

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