Results 41 to 50 of about 1,974,376 (233)

Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis [PDF]

Genetics and Molecular Biology
Synonymous single nucleotide variants (sSNVs) do not alter the primary structure of a protein, thus it was previously accepted that they were neutral. Recently, several studies demonstrated their significance to a range of diseases.
Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte   +6 more
doaj   +1 more source

Non-Synonymous, Synonymous, and Non-Coding Nucleotide Variants Contribute to Recurrently Altered Biological Processes During Retinoblastoma Progression

bioRxiv, 2022
Retinoblastomas form in response to biallelic RB1 mutations or MYCN amplification and progress to more aggressive and therapy-resistant phenotypes through accumulation of secondary genomic changes.
Kevin Stachelek, N. Harutyunyan, Susanna I. Lee, Assaf Beck, Jonathan W. Kim, Li-Ya Xu, Jesse L. Berry, Aaron Nagiel, C. Reynolds, A. Linn Murphree, Thomas C. Lee, J. G. Aparicio, D. Cobrinik   +12 more
semanticscholar   +1 more source

Negative linkage disequilibrium between amino acid changing variants reveals interference among deleterious mutations in the human genome.

PLoS Genetics, 2021
Evolutionary forces like Hill-Robertson interference and negative epistasis can lead to deleterious mutations being found on distinct haplotypes. However, the extent to which these forces depend on the selection and dominance coefficients of deleterious ...
Jesse A Garcia, Kirk E Lohmueller
doaj   +1 more source

De novo synonymous variants disrupt splicing.

, 2022
A. Number of variants that significantly disrupted splicing in each minigene reporter construct. B. Example pedigree depicting an affected (gray diamond) and unaffected sibling (white diamond). Diamonds represent either male or female. Of the 447 assayed
Christy L. Rhine (4911415), Jing Wang (6206297), Ijeoma C. Meremikwu (11979311), Luke Buerer (11979305), Natasha T. Strande (9635223), Mitchell Salomon (11979308), William G. Fairbrother (11415494), Christopher Neil (433186), Samantha Maguire (4911421), Juliana Kim (11979314)   +9 more
core   +1 more source

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

BMC Medical Genomics, 2021
Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis.
Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang   +5 more
semanticscholar   +1 more source

In silico analysis of CDH2 synonymous variants frequency.

, 2020
In silico analysis of CDH2 synonymous variants ...
Juliana Moreira (8623552), Renata Kertsz (8617512)   +1 more
core   +1 more source

Annotating pathogenic non-coding variants in genic regions

Nature Communications, 2017
While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription.
Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein   +11 more
doaj   +1 more source

Surveillance for feline herpesvirus type 1 mutation and development of resistance in cats treated with antiviral medications

Frontiers in Veterinary Science, 2023
Feline herpesvirus type 1 (FHV-1) commonly causes ocular surface disease in cats and is treated with antiviral medications targeting viral DNA polymerase (UL30/42).
Andrew C. Lewin, Nikole E. Ineck, Melanie A. Mironovich, Morgan E. Marino, Chin-Chi Liu, Ugochi Emelogu, Erinn P. Mills, Pilar Camacho-Luna, Renee T. Carter   +8 more
doaj   +1 more source

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom

Scientific Reports, 2023
This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease in British Bangladeshi and Pakistani people.
Julia Zöllner, Sarah Finer, Kenneth J. Linton, Genes and Health Research Team, David A. van Heel, Catherine Williamson, Peter H. Dixon   +6 more
doaj   +1 more source

New insights into the pathogenicity of non-synonymous variants through multi-level analysis

Scientific Reports, 2019
Precise classification of non-synonymous single nucleotide variants (SNVs) is a fundamental goal of clinical genetics. Next-generation sequencing technology is effective for establishing the basis of genetic diseases.
Hong Sun, Guang-Jun Yu
semanticscholar   +1 more source