Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23823
Abstract: The Critical Assessment of Genome Interpretation‐5 intellectual disability challenge asked to use computational methods to predict patient clinical phenotypes and the causal variant(s) based on an analysis of their gene panel sequence data. Sequence data… read more here.
Keywords: pathogenic variants; intellectual disability; patient clinical; disability ... See more keywords
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Cancer"
DOI: 10.1002/ijc.30428
Abstract: Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high‐ and moderate to low‐penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become… read more here.
Keywords: panel; breast ovarian; ovarian cancer; cancer ... See more keywords
Clinical implementation of gene panel testing for lysosomal storage diseases
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.527
Abstract: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic… read more here.
Keywords: implementation gene; lysosomal storage; clinical implementation; storage diseases ... See more keywords
Multi-gene Panel Testing in Breast Cancer Management.
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DOI: 10.1007/978-3-319-70197-4_8
Abstract: Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the… read more here.
Keywords: multi gene; panel testing; cancer; gene ... See more keywords
Author’s reply to “A novel seven-gene panel predicts the sensitivity and prognosis of head and neck squamous cell carcinoma treated with platinum-based radio(chemo)therapy”
Sign Up to like & getrecommendations! Published in 2021 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-021-06985-1
Abstract: We are pleased that our colleagues are reading our article [1] with great interest, and we appreciate their comments that raise valid questions. These questions are answered below one-by-one. First, head and neck squamous cell… read more here.
Keywords: cell carcinoma; squamous cell; seven gene; panel ... See more keywords
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2021 at "Archivos De Bronconeumologia"
DOI: 10.1016/j.arbr.2021.01.003
Abstract: Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective… read more here.
Keywords: primary ciliary; diagnosis; gene panel; panel ... See more keywords
Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.
Sign Up to like & getrecommendations! Published in 2017 at "Kidney international"
DOI: 10.1016/j.kint.2017.07.009
Abstract: Genetic testing in kidney disease has been gaining more attention in recent years as an important diagnostic tool. Especially in selected cases, genetic testing can be a first mode of diagnostics in various renal diseases.… read more here.
Keywords: variant calling; disease; panel testing; gene ... See more keywords
Estimating risk using multi-gene panel testing; do negative results change the risk?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.125
Abstract: Recently, Mannan et al.1 reported that multi-gene panel testing provided increased sensitivity for detection of pathogenic mutations, which characterize hereditary breast and/or ovarian cancer syndromes. I think it is important to recognize that while enormous… read more here.
Keywords: multi gene; risk; gene panel; panel testing ... See more keywords
Economic evaluation of a pharmacogenomic multi-gene panel test to optimize anti-hypertension therapy: simulation study
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Medical Economics"
DOI: 10.1080/13696998.2018.1531011
Abstract: Abstract Aims: Hypertension is the strongest modifiable risk factor for cardiovascular disease, affecting 80 million individuals in the US and responsible for ∼360,000 deaths, at total annual costs of $93.5 billion. Antihypertension therapies guided by… read more here.
Keywords: therapy; multi gene; hypertension; panel ... See more keywords
A 2020 update on the use of genetic testing for patients with primary immunodeficiency
Sign Up to like & getrecommendations! Published in 2020 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2020.1814145
Abstract: ABSTRACT Introduction Genetic testing of patients with clinically diagnosed or suspected primary immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and patient attributes can impact the likelihood of securing a diagnosis. Areas covered… read more here.
Keywords: gene panel; suspected pids; testing patients; genetic testing ... See more keywords
Prognostic value of CpG island methylator phenotype in gastric cancer
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Science"
DOI: 10.1111/cas.13705
Abstract: Dear Editor, This letter reports some observations on the recent article entitled “Meta‐analysis of the prognostic value of CpG island methylator phenotype in gastric cancer” by Powell et al (2018) reporting that gastric cancers showing… read more here.
Keywords: cancer; gene; gene panel; panel group ... See more keywords