Zobrazeno 1 - 10
of 307
pro vyhledávání: '"pathogenicity prediction"'
Autor:
Rahaf M. Ahmad, Bassam R. Ali, Fatma Al-Jasmi, Noura Al Dhaheri, Saeed Al Turki, Praseetha Kizhakkedath, Mohd Saberi Mohamad
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-16 (2024)
Abstract Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in on
Externí odkaz:
https://doaj.org/article/0878bc18cc3d4afc895986a1c9f761b1
Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Common variable immunodeficiency (CVID) is a group of genetic disorders involving more than a dozen genetic loci and characterized by a deficiency in specific antibody isotypes leading to poor immune responses and recurrent infection. CVID affects ap
Externí odkaz:
https://doaj.org/article/0b2a077a62264057a8ec2241c8696863
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense variants in the NAGLU, GNS, HGSNAT, and SGSH genes. The pathogenicity interpretation of missense variants is still challenging. We aimed to develop unsuper
Externí odkaz:
https://doaj.org/article/e102fd916cb0443e9dc6840e3efa0455
Autor:
Md. Mostafa Kamal, Md. Sohel Mia, Md. Omar Faruque, Md. Golam Rabby, Md. Numan Islam, Md. Enamul Kabir Talukder, Tanveer A. Wani, M. Atikur Rahman, Md. Mahmudul Hasan
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Single nucleotide polymorphisms (SNPs) are one of the most common determinants and potential biomarkers of human disease pathogenesis. SNPs could alter amino acid residues, leading to the loss of structural and functional integrity of the en
Externí odkaz:
https://doaj.org/article/4ffc8eb079e84c049235c114fbedf3cc
Autor:
D. G. Tikhonov, A. N. Egorov, M. V. Golubenko, A. Yu. Molokov, V. A. Belyavskaya, P. A. Gervas, N. A. Skryabin
Publikováno v:
Сибирский онкологический журнал, Vol 22, Iss 6, Pp 74-82 (2024)
Background. The Sakha (Yakutia) population, the indigenous population of Siberia living in Yakutia, has one of the lowest rates of breast cancer (BC) incidence worldwide. The low BC incidence among the indigenous population of Yakutia has been report
Externí odkaz:
https://doaj.org/article/8755eb2f10bb415c8d97185552d1f2d2
Autor:
David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. Experimental approaches for identifying GOF and LOF are generally slow and costly, wh
Externí odkaz:
https://doaj.org/article/e13ec2e645a64a879f6a689a901c55ea
Autor:
Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-14 (2023)
Abstract Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,5
Externí odkaz:
https://doaj.org/article/abe57e8f8eeb4c5d89716d6f96612afb
Publikováno v:
Biomolecules, Vol 14, Iss 9, p 1105 (2024)
The classification of missense variant pathogenicity continues to pose significant challenges in human genetics, necessitating precise predictions of functional impacts for effective disease diagnosis and personalized treatment strategies. Traditiona
Externí odkaz:
https://doaj.org/article/27b2ec8a70534aa092445ad2c2a84f0f
Autor:
Sravani Akula, Sai Charitha Mullaguri, Niklas Max Melton, Archana Katta, Venkata Sai Giridhar Reddy Naga, Shyamson Kandula, Raj Kumar Pedada, Janakiraman Subramanian, Rama Krishna Kancha
Publikováno v:
Cancer Medicine, Vol 12, Iss 16, Pp 17468-17474 (2023)
Abstract Background Mutations in kinases are the most frequent genetic alterations in cancer; however, experimental evidence establishing their cancerous nature is available only for a small fraction of these mutants. Aims Predicition analysis of kin
Externí odkaz:
https://doaj.org/article/e7fbbda0df94487197d9dc00e823a0e8
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated
Externí odkaz:
https://doaj.org/article/7a8103a96fdc45a5a5d128cde2639898