Cargando…

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

BACKGROUND: The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of genomic data has been paralleled by a rise in the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Caswell, Richard C., Gunning, Adam C., Owens, Martina M., Ellard, Sian, Wright, Caroline F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308257/ https://www.ncbi.nlm.nih.gov/pubmed/35869530 http://dx.doi.org/10.1186/s13073-022-01082-2

Ejemplares similares

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1
por: Caswell, Richard C, et al.
Publicado: (2019)

Assessing performance of pathogenicity predictors using clinically relevant variant datasets
por: Gunning, Adam C, et al.
Publicado: (2021)

Genomic variant sharing: a position statement
por: Wright, Caroline F., et al.
Publicado: (2019)

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
por: Burren, Christine P., et al.
Publicado: (2018)

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants
por: Caswell, Richard C., et al.
Publicado: (2020)

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
por: Wai, Htoo A., et al.
Publicado: (2020)

Pitfalls of haplotype phasing from amplicon-based long-read sequencing
por: Laver, Thomas W., et al.
Publicado: (2016)

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
por: Wai, Htoo A., et al.
Publicado: (2020)

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories
por: Lincoln, Stephen E., et al.
Publicado: (2017)

Assessing the utility of molecular diagnostic classification for cancers of unknown primary
por: Moore, Elle C., et al.
Publicado: (2023)

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
por: Cannon, S., et al.
Publicado: (2023)

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer
por: Loveday, Chey, et al.
Publicado: (2018)

Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
por: Cannon, S., et al.
Publicado: (2023)

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
por: Fokkema, Ivo F. A. C., et al.
Publicado: (2019)

Clinical Observations and Laboratory Experiments
por: Wright, C. M.
Publicado: (1884)

Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification
por: Staklinski, Stephen J., et al.
Publicado: (2023)

The functional genomics laboratory: functional validation of genetic variants
por: Rodenburg, Richard J.
Publicado: (2018)

An exome sequencing strategy to diagnose lethal autosomal recessive disorders
por: Ellard, Sian, et al.
Publicado: (2015)

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory
por: Bisgin, Atil, et al.
Publicado: (2018)

Prospective functional classification of all possible missense variants in PPARG
por: Majithia, Amit R., et al.
Publicado: (2016)

Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory
por: Ponomarenko, Petr, et al.
Publicado: (2017)

Clinical Utility of the Cryptococcal Antigen Lateral Flow Assay in a Diagnostic Mycology Laboratory
por: McMullan, Brendan J., et al.
Publicado: (2012)

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
por: Laver, Thomas W., et al.
Publicado: (2022)

Recommendations for clinical interpretation of variants found in non-coding regions of the genome
por: Ellingford, Jamie M., et al.
Publicado: (2022)

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
por: Sansbury, Francis H, et al.
Publicado: (2015)

Misannotation of multiple-nucleotide variants risks misdiagnosis
por: Wakeling, Matthew N., et al.
Publicado: (2020)

Diagnosis of tuberculosis: the experience at a specialized diagnostic laboratory
por: Mashta, Anita, et al.
Publicado: (2011)

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
por: Yap, Zheng Yie, et al.
Publicado: (2021)

569. Utility of Repeat Molecular Diagnostic Testing in the Laboratory Diagnosis of Pulmonary Tuberculosis
por: Chia, Jonathan
Publicado: (2023)

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
por: Lango Allen, Hana, et al.
Publicado: (2014)

Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912
por: Misra, Shivani, et al.
Publicado: (2020)

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes
por: Misra, Shivani, et al.
Publicado: (2020)

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool
por: Garrett, Lauren T., et al.
Publicado: (2016)

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory
por: Saville, Jennifer T., et al.
Publicado: (2021)

Utility of Xpert Carba-R® in diagnostic laboratory for early detection of carbapenems resistant Enterobacteriaceae
por: Aljohani, S, et al.
Publicado: (2015)

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
por: Bosio, Mattia, et al.
Publicado: (2019)

Assessment of the Diagnostic Utility of Serum MicroRNA Classification in Patients With Diffuse Glioma
por: Ohno, Makoto, et al.
Publicado: (2019)

Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory
por: Hartman, Paige, et al.
Publicado: (2019)

Diagnostic utility of whole-genome sequencing for nephronophthisis
por: Larrue, Romain, et al.
Publicado: (2020)

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
por: Rautengarten, Carsten, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_6r69bm9jju3ufm5me8ljmmg3tk