Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Autor: Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino

Publikováno v: Frontiers in Genetics, Vol 8 (2017)

Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recess

Externí odkaz: https://doaj.org/article/392a6f6cae1b46c197a73e5955ff3b41

Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing

Autor: Vida Stegel, Ana Blatnik, Erik Škof, Vita Šetrajčič Dragoš, Mateja Krajc, Brigita Gregorič, Petra Škerl, Ksenija Strojnik, Gašper Klančar, Marta Banjac, Janez Žgajnar, Maja Ravnik, Srdjan Novaković

Publikováno v: Cancers; Volume 14; Issue 6; Pages: 1434
Cancers, vol. 14, no. 6, pp. 1434-1-1434-17, 2022.
Cancers, str. 1434-1-1434-17, Vol. 14, no. 6, Mar. 2022
COBISS-ID: 517914137

Detection of germline and somatic pathogenic/likely pathogenic variants (PV/LPV) in BRCA genes is at the moment a prerequisite for use of PARP inhibitors in different treatment settings of different tumors. The aim of our study was to determine the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c8c4cd2e0e536a995b9fc93483d5af

New approach for detection of normal alternative splicing events and aberrant spliceogenic transcripts with long-range PCR and deep RNA sequencing

Autor: Vida Stegel, Srdjan Novaković, Mateja Krajc, Gašper Klančar, Ana Blatnik, Vita Setrajcic Dragos

Publikováno v: Biology, vol. 10, no. 8, pp. 706-1-706-12, 2021.
Biology, Vol 10, Iss 706, p 706 (2021)
Biology, str. 706-1-706-12, Vol. 10, no. 8, 2021
COBISS-ID: 523004441
Biology
Volume 10
Issue 8

RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood. We have val

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a0ddee4b5d7f3c593a01799641a8c4
https://dirros.openscience.si/Dokument.php?id=20589&dn=

A Novel Germline

Autor: Gašper, Klančar, Ana, Blatnik, Vita, Šetrajčič Dragoš, Vesna, Vogrič, Vida, Stegel, Olga, Blatnik, Primož, Drev, Barbara, Gazič, Mateja, Krajc, Srdjan, Novaković

Publikováno v: Genes

The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expressio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f963ab4c8f56d54faaa36cbe57c5a278
https://pubmed.ncbi.nlm.nih.gov/32197529

Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I

Autor: Vita Setrajcic Dragos, Srdjan Novaković, Vida Stegel, Gašper Klančar, Ana Blatnik, Mateja Krajc, Olga Blatnik

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)

Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders, since the estimated incidence is one in 3,500 births. In this study, we present bioinformatical and functional characterization of two novel splicing NF1 variants,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b835b9f4d683dfb8358f58fbaf723a7c
http://europepmc.org/articles/PMC6714493