Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model-Reference-Cited by-同舟云学术

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Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

Published:2020-01 Issue:1 Volume:22 Page:40-49
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Välipakka Salla,Savarese Marco,Sagath Lydia,Arumilli Meharji,Giugliano Teresa,Udd Bjarne,Hackman Peter

Funder

Folkhälsan Research Foundation

Jane and Aatos Erkko Foundation

Sigrid Jusélius Foundation

Alfred Kordelin Foundation

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference47 articles.

1. The 2019 version of the gene table of neuromuscular disorders (nuclear genome);Bonne;Neuromuscul Disord,2018

2. Diagnostic use of massively parallel sequencing in neuromuscular diseases: towards an integrated diagnosis;Biancalana;J Neuromuscul Dis,2015

3. Targeted next-generation sequencing assay for detection of mutations in primary myopathies;Evila;Neuromuscul Disord,2016

4. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders;Pfundt;Genet Med,2017

5. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes;Truty;Genet Med,2019

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1. A de novo <i>PRPF8</i> Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure;Hormone Research in Paediatrics;2024-07-22

2. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3;BMC Pediatrics;2024-01-11

3. Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings;Frontiers in Genetics;2023-12-14

4. Titin copy number variations associated with dominant inherited phenotypes;Journal of Medical Genetics;2023-11-07

5. Applications of artificial intelligence in clinical laboratory genomics;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-07-28

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