Haplotypes - Open Access .click

Results 111 to 120 of about 109,284 (237)

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz +8 more
wiley +1 more source

Haplotype [PDF]

, 2019
openaire +3 more sources

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, EarlyView.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li +8 more
wiley +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

Movement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step +680 more
wiley +1 more source

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen +14 more
wiley +1 more source

Variant Prioritization by Pedigree-Based Haplotyping. [PDF]

Genet Epidemiol
Nafikov RA +8 more
europepmc +1 more source

Haplotype [PDF]

, 2020
openaire +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source

Intraspecific identification of Actinidia eriantha Benth. based on chloroplast genes. [PDF]

PLoS One
Lan L +9 more
europepmc +1 more source

The potential of seedbank digital information in plant conservation

PLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo +23 more
wiley +1 more source

humans
algorithms
3. good health

polymorphism, single nucleotide
genotype
models, genetic

alleles
phylogeny
genetic diversity