Detection of ultra-rare mutations by next-generation sequencing.
Proc Natl Acad Sci U S A. 2012.
PMID: 22853953
Free PMC article.
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Detection of ultra-rare mutations by next-generation sequencing.
Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14508-13. doi: 10.1073/pnas.1208715109. Epub 2012 Aug 1.
Proc Natl Acad Sci U S A. 2012.
PMID: 22853953
Free PMC article.
Next-generation DNA sequencing promises to revolutionize clinical medicine and basic research. ...In contrast, PCR or sequencing errors result in mutations in only one strand and can thus be discounted as technical error. ...
Next-generation DNA sequencing promises to revolutionize clinical medicine and basic research. ...In contrast, PCR or …
Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing.
PLoS One. 2015 Aug 25;10(8):e0136216. doi: 10.1371/journal.pone.0136216. eCollection 2015.
PLoS One. 2015.
PMID: 26305705
Free PMC article.
A major challenge in investigating these rare mutations is that conventional next generation sequencing (NGS) methods have high error rates. We have established a new method termed Duplex Sequencing (DS), which detects mutations wi …
A major challenge in investigating these rare mutations is that conventional next generation sequencing (NGS) me …
Detection of in vivo mutagenicity in rat liver samples using error-corrected sequencing techniques.
Genes Environ. 2023 Nov 22;45(1):30. doi: 10.1186/s41021-023-00288-z.
Genes Environ. 2023.
PMID: 37993952
Free PMC article.
Therefore, introducing a technology to directly detect in vivo mutagenicity in rats would be necessary. The next-generation sequencing (NGS) based error-corrected sequencing technique is a promising approach for such purposes. ...PECC-Seq allows …
Therefore, introducing a technology to directly detect in vivo mutagenicity in rats would be necessary. The next-generation …
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Genes (Basel). 2021 Aug 24;12(9):1299. doi: 10.3390/genes12091299.
Genes (Basel). 2021.
PMID: 34573280
Free PMC article.
Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase in t …
Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired fun …
Detection of genome-wide low-frequency mutations with Paired-End and Complementary Consensus Sequencing (PECC-Seq) revealed end-repair-derived artifacts as residual errors.
Arch Toxicol. 2020 Oct;94(10):3475-3485. doi: 10.1007/s00204-020-02832-0. Epub 2020 Jul 31.
Arch Toxicol. 2020.
PMID: 32737516
To improve the accuracy and the cost-efficiency of next-generation sequencing in ultralow-frequency mutation detection, we developed the Paired-End and Complementary Consensus Sequencing (PECC-Seq), a PCR-free duplex consensus sequenci …
To improve the accuracy and the cost-efficiency of next-generation sequencing in ultralow-frequency mutation …
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
J Appl Genet. 2021 Feb;62(1):107-113. doi: 10.1007/s13353-020-00591-3. Epub 2020 Oct 31.
J Appl Genet. 2021.
PMID: 33131036
Free PMC article.
Review.
Auriculocondylar syndrome (ACS) is an ultra-rare disorder that arises from developmental defects of the first and second pharyngeal arches. ...We have also compared the clinical features of our case to three other previously described cases (one sporadic and two fam …
Auriculocondylar syndrome (ACS) is an ultra-rare disorder that arises from developmental defects of the first and second phary …
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
Int J Mol Sci. 2022 Oct 28;23(21):13076. doi: 10.3390/ijms232113076.
Int J Mol Sci. 2022.
PMID: 36361862
Free PMC article.
Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects …
Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by …
Identification of an ultra-rare Alu insertion in the CFTR gene: Pitfalls and challenges in genetic test interpretation.
Clin Chim Acta. 2024 Apr 4;558:118317. doi: 10.1016/j.cca.2024.118317. Online ahead of print.
Clin Chim Acta. 2024.
PMID: 38580140
Free article.
Early detection through newborn screening programs significantly improves outcomes for individuals with CF by enabling timely intervention. Here, we report the identification of an Alu element insertion within the exon 15 of CFTR gene, initially overlooked in standard n …
Early detection through newborn screening programs significantly improves outcomes for individuals with CF by enabling timely interve …
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
Cancer Res. 2021 Apr 15;81(8):1954-1964. doi: 10.1158/0008-5472.CAN-20-3065. Epub 2021 Feb 18.
Cancer Res. 2021.
PMID: 33602785
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing genes requires dete …
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade …
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1.
Clin Genet. 2017.
PMID: 28155230
BACKGROUND: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mappi …
BACKGROUND: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, devel …
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