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Showing 241 to 248 of 248 entries
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Towards a systemic paradigm in carcinogenesis: linking epigenetics and genetics.

Molecular biology reports

Burgio E, Migliore L.
PMID: 25387435
Mol Biol Rep. 2015 Apr;42(4):777-90. doi: 10.1007/s11033-014-3804-3.

For at least 30 years cancer has been defined as a genetic disease and explained by the so-called somatic mutation theory (SMT), which has dominated the carcinogenesis field. Criticism of the SMT has recently greatly increased, although still not...

Sequence error storms and the landscape of mutations in cancer.

Proceedings of the National Academy of Sciences of the United States of America

Kirsch S, Klein CA.
PMID: 22912407
Proc Natl Acad Sci U S A. 2012 Sep 04;109(36):14289-90. doi: 10.1073/pnas.1212246109. Epub 2012 Aug 21.

No abstract available.

Genetic Evaluation of Pancreatitis.

Gastrointestinal endoscopy clinics of North America

Fu Y, Lucas AL.
PMID: 34798985
Gastrointest Endosc Clin N Am. 2022 Jan;32(1):27-43. doi: 10.1016/j.giec.2021.08.006.

Hereditary pancreatitis (HP) is a rare inherited chronic pancreatitis (CP) with strong genetic associations, with estimated prevalence ranging from 0.3 to 0.57 per 100,000 across Europe, North America, and East Asia. Apart from the most well-described genetic variants are...

[KCNQ2 gene mutations and neonatal epilepsy].

Medicina clinica

García Castellanos MT, López Pisón J, Pérez Delgado R.
PMID: 33962768
Med Clin (Barc). 2021 Dec 24;157(12):589-590. doi: 10.1016/j.medcli.2021.01.019. Epub 2021 May 04.

No abstract available.

Template switching and duplications in SARS-CoV-2 genomes give rise to insertion variants that merit monitoring.

Communications biology

Garushyants SK, Rogozin IB, Koonin EV.
PMID: 34848826
Commun Biol. 2021 Nov 30;4(1):1343. doi: 10.1038/s42003-021-02858-9.

The appearance of multiple new SARS-CoV-2 variants during the COVID-19 pandemic is a matter of grave concern. Some of these variants, such as B.1.617.2, B.1.1.7, and B.1.351, manifest higher infectivity and virulence than the earlier SARS-CoV-2 variants, with potential...

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Scientific reports

Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C.
PMID: 33707547
Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w.

Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We...

Some recollections and reflections on mutation rates.

Genetics

Fox MS.
PMID: 9560362
Genetics. 1998 Apr;148(4):1415-8. doi: 10.1093/genetics/148.4.1415.
Free PMC Article

No abstract available.

Human Genetic Mutant Cell Repository.

Cytogenetics and cell genetics

[No authors listed]
PMID: 4780771
Cytogenet Cell Genet. 1973;12(5):367-73. doi: 10.1159/000130475.
Free Article

No abstract available.

Showing 241 to 248 of 248 entries