Results 21 to 30 of about 2,902,010 (219)

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome [PDF]

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +2 more sources

Analyzing the performance of deep learning splice prediction algorithms. [PDF]

PLoS ONE
SpliceAI is the leading tool for predicting splice-altering variants, but restrictive licensing limits clinical adoption. While open-source implementations have been published with author-reported comparisons, independent benchmarking across diverse ...
Nathan Fortier, Gabe Rudy, Andreas Scherer   +2 more
doaj   +2 more sources

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

The Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H   +6 more
doaj   +2 more sources

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia [PDF]

Frontiers in Endocrinology
X-linked hypophosphatemia (XLH) is a rare, genetically determined disorder of phosphate metabolism, most commonly caused by mutations in the PHEX gene. These mutations lead to overexpression of the phosphaturic hormone FGF23, resulting in renal phosphate
Susanne Spranger, Helene Faust, Helene Faust, Patricia Duffek, Susanna Schubert, Heyko Skladny, Peter Kovacs, Anke Tönjes, Anke Tönjes, Denny Popp   +9 more
doaj   +2 more sources

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis [PDF]

Human Genomics
Background Consanguinity provides shortcuts to identify homozygous recessive mutations. However, deep-intronic variants escape standard sequencing (panel; exome/WES), and their pathogenicity cannot be inferred from genomic data. We applied WES, long-read
Angelika Bolte, Clara Velmans, Christian Netzer, Eva Thimm, Ali Tunҫ Tuncel, Friederike Bürger, Milan Hiersche, Christian Betz, Hanno Jörn Bolz   +8 more
doaj   +2 more sources

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome. [PDF]

Clin Immunol
Dedicator of cytokinesis 8 (DOCK8) deficiency underlies the majority of cases of patients with autosomal recessive form of the hyper-immunoglobulin E syndrome (HIES).
Oktelik FB, Wang M, Keles S, Eke Gungor H, Cansever M, Can S, Karakoc-Aydiner E, Baris S, Schmitz-Abe K, Benamar M, Chatila TA.   +10 more
europepmc   +2 more sources

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome [PDF]

JID Innovations
Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir–Torre syndrome, a subtype of Lynch syndrome.
Fiona Chan-Pak-Choon, Andrew Y. Shuen, Evan Weber, Lili Fu, Barbara Rivera, William D. Foulkes   +5 more
doaj   +2 more sources

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report [PDF]

Frontiers in Oncology
Identification of a deep intronic PTEN pathogenic variant, which was not detected by standard DNA-targeted panel sequencing but was uncovered by targeted PTEN RNA sequencing using CaptureSeq technology, illustrates the added value of concurrent DNA and ...
Michael J Hall, Dong Won Kim, Devang Namjoshi, Michelle McSweeny, Marcy E Richardson, Ashley PL Marsh, Felicia Hernandez, Demitrios Dedousis   +7 more
doaj   +2 more sources

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. [PDF]

Clin Genet, 2023
Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome-wide linkage analysis for thoracic aortic disease identified a peak at 15q21.
Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM.   +14 more
europepmc   +2 more sources

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. [PDF]

Hum Mutat, 2021
The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet need. Following uninformative exome and genome sequencing of a family quartet including two siblings with suspected ...
Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C.   +14 more
europepmc   +2 more sources