Results 11 to 20 of about 228 (131)

Variant Prioritization by Pedigree-Based Haplotyping. [PDF]

Genet Epidemiol
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Nafikov RA, Sohi HK, Nato AQ, Horimoto AR, Day TRC, Bird TD, DeStefano AL, Blue EE, Wijsman EM.   +8 more
europepmc   +2 more sources

Experiences of metastatic prostate cancer patients with a mainstream genetic testing pathway. [PDF]

Int J Cancer
What's new? Germline genetic testing can direct cancer patients towards more optimal treatment options and relatives towards targeted cancer screening or preventive measures. In the case of prostate cancer, many patients are eligible for such testing, though little is known about its psychosocial impacts.
Vlaming M, Bleiker EMA, Schijven G, Kiemeney LALM, van Melick HHE, Hunting JCB, Noordzij MA, Beeker A, Somford DM, van der Poel HG, Wijburg CJ, Wijsman BP, Hoekstra RJ, van Moorselaar RJA, van Bezooijen BPJ, Meijer RP, Busstra MB, van den Berg HP, Robbrecht DGJ, Doornweerd BHJ, van Oort IM, Ausems MGEM.   +21 more
europepmc   +2 more sources

Detecting Convergence of Amino Acid Physicochemical Properties Underlying the Organismal Adaptive Convergent Evolution. [PDF]

Mol Ecol Resour
ABSTRACT Many studies have proposed various comparative genomic methods to probe the molecular basis for adaptive functional convergence between species, conventionally by detecting the convergence of amino acid states between orthologous protein sequences of these species or lineages.
Chen S, Zou Z.
europepmc   +2 more sources

Integrative multi-omics approaches identify molecular pathways and improve Alzheimer's disease risk prediction. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Alzheimer's disease (AD) is a complex neurodegenerative disorder with heterogeneous genetic and molecular underpinnings. Polygenic scores (PGS) capture little of this complexity. METHODS We conducted genome‐, transcriptome‐, and proteome‐wide association studies (G/T/PWAS) on 15,480 individuals from the Alzheimer's Disease ...
Venkatesh R, Cardone KM, Bradford Y, Moore AK, Kumar R, Moore JH, Shen L, Kim D, Ritchie MD.   +8 more
europepmc   +2 more sources

How do microtine rodent abundance, snow and landscape parameters influence pine marten Martes martes population dynamics? [PDF]

Ecol Evol
We found that pine marten populations were directly density dependent in Hedmark, Norway. Additionally, pine marten abundance was positively correlated with a microtine rodent abundance index, elevation, snow depth and mature spruce forests. Their annual population growth rate was positively influenced by the interaction between the microtine rodent ...
Angoh SYJ, Nergaard PJ, Jahren T, Odden M, Brainerd SM.   +4 more
europepmc   +2 more sources

LD-informed deep learning for Alzheimer's gene loci detection using WGS data. [PDF]

Alzheimers Dement (N Y)
Abstract INTRODUCTION The exponential growth of genomic datasets necessitates advanced analytical tools to effectively identify genetic loci from large‐scale high throughput sequencing data. This study presents Deep‐Block, a multi‐stage deep learning framework that incorporates biological knowledge into its AI architecture to identify genetic regions ...
Jo T, Bice P, Nho K, Saykin AJ, Alzheimer's Disease Sequencing Project.   +4 more
europepmc   +2 more sources

Midkine promotes PDGF-BB-induced proliferation, migration, and glycolysis of airway smooth muscle cells via the PI3K Akt pathway. [PDF]

Physiol Rep
Abstract Airway smooth muscle cell (ASMC) dysfunction drives airway remodeling in asthma, yet the molecular mediators remain incompletely defined. Midkine, a pleiotropic growth factor, has emerged as a potential regulator of inflammatory and proliferative responses.
Xu Y, Li W, Shi J, Guo Y.
europepmc   +2 more sources

An alternative approach to ideal Wijsman convergence

Journal of Classical Analysis, 2023
Summary: The concept of Wijsman convergence of a sequence of sets was defined using the pointwise convergence of the sequence of distance functions. Based on this idea, in this article, a new type of set convergence is obtained by using the concept of ideal \(\alpha\)-convergence for the sequence of distance functions.
Ölmez, Öznur, AYTAR, Salih, ALBAYRAK, Hüseyin   +2 more
openaire   +3 more sources

NIAGADS: A data repository for Alzheimer's disease and related dementia genomics. [PDF]

Alzheimers Dement
Abstract The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is the National Institute on Aging–designated national data repository for human genetics research on Alzheimer's disease and related dementias (ADRD).
Kuzma A, Valladares O, Greenfest-Allen E, Nicaretta H, Kirsch M, Ren Y, Katanic Z, White H, Wilk A, Bass L, Brettschneider J, Carter L, Cifello J, Chuang WH, Clark K, Gangadharan P, Haut J, Ho PC, Horng W, Iqbal T, Jin Y, Keskinen P, Rose AL, Moon MK, Manuel J, Qu L, Robbins F, Saravanan N, Sha J, Tate S, Zhao Y, Alzheimer's Disease Sequencing Project, Cantwell L, Gardner J, Chou SY, Tzeng JY, Bush W, Naj A, Kuksa P, Lee WP, Leung YY, Schellenberg G, Wang LS.   +42 more
europepmc   +2 more sources

Wijsman lacunary I-invariant convergence of sequences of sets [PDF]

Proceedings of the National Academy of Sciences, India Section A: Physical Sciences, 2022
Afyon Kocatepe University Scientific Research Coordination Unit [17]
Dündar, Erdinç, Akın, Nimet Pancaroğlu, Ulusu, Uğur   +2 more
openaire   +3 more sources