Results 201 to 210 of about 174,007 (375)
Genotype imputation from low-coverage WGS using haplotype reference panels in cultivated strawberry [PDF]
Tim Koorevaar +4 more
openalex +1 more source
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Outreach events for WG II, WG WG III and the Synthesis Report
Dissemination events for the Working Group contributions to the IPCC AR6 and the Synthesis Report. (48/2024)
openaire +1 more source
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Bam2Drug: A novel cancer pipeline for complete characterization of WGS/WES data
Djordje Klisic
openalex +1 more source
Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto +2 more
wiley +1 more source
Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. [PDF]
Shi M, Li H, Shafer ABA, Lan T.
europepmc +1 more source

