Cargando…

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

PURPOSE: Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with genomic variants could improve the diagnostic rate. We aimed to investigate publicly available exome sequencing data and its matching...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yamada, Mamiko, Suzuki, Hisato, Shiraishi, Yuichi, Kosaki, Kenjiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819738/ https://www.ncbi.nlm.nih.gov/pubmed/31687339 http://dx.doi.org/10.1016/j.ymgmr.2019.100531

Ejemplares similares

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
por: Yamada, Mamiko, et al.
Publicado: (2020)

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
por: Suzuki, Hisato, et al.
Publicado: (2020)

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
por: Ouchi, Shogo, et al.
Publicado: (2023)

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
por: Kurosawa, Ryo, et al.
Publicado: (2023)

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

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
por: Zampatti, Stefania, et al.
Publicado: (2023)

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
por: Yamada, Mamiko, et al.
Publicado: (2022)

Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report
por: Tsuchida, Yumi, et al.
Publicado: (2022)

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease
por: Massadeh, Salam, et al.
Publicado: (2021)

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
por: Stals, Karen L., et al.
Publicado: (2017)

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
por: Watanabe, Keisuke, et al.
Publicado: (2022)

Oculofaciocardiodental syndrome caused by a novel BCOR variant
por: Yamashita, Tomoyo, et al.
Publicado: (2023)

Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls
por: Deng, Haiyue, et al.
Publicado: (2020)

Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
por: Lin, Shin-Yu, et al.
Publicado: (2021)

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
por: Davidson, Alice E., et al.
Publicado: (2010)

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
por: Miao, Mingzhu, et al.
Publicado: (2023)

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
por: Takata, Atsushi, et al.
Publicado: (2011)

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders
por: Rödelsperger, Christian, et al.
Publicado: (2011)

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2012)

Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants
por: Finsterer, Josef
Publicado: (2023)

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data
por: Shiraishi, Yuichi, et al.
Publicado: (2022)

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2013)

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
por: Morino, Hiroyuki, et al.
Publicado: (2014)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
por: Fozia, Fozia, et al.
Publicado: (2021)

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2018)

Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase
por: Yoshikawa, Yuji, et al.
Publicado: (2023)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
por: Chorin, Odelia, et al.
Publicado: (2020)

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants
por: Johnston, Jennifer J., et al.
Publicado: (2018)

Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy
por: Hong, Daojun, et al.
Publicado: (2019)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
por: Gerber, Sylvie, et al.
Publicado: (2023)

Multiple introductions of SARS-CoV-2 B.1.1.214 lineages from mainland Japan preceded the third wave of the COVID-19 epidemic in Hokkaido
por: Shimura, Takako, et al.
Publicado: (2021)

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
por: Hashmi, Jamil A., et al.
Publicado: (2016)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa
por: Katagiri, Satoshi, et al.
Publicado: (2014)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

Autosomal Recessive Polycystic Kidney Disease
por: Salati, Sajad Ahmad
Publicado: (2014)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_234d11ph910r1ee97qkfej8r5m