Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates. [PDF]
Lalagkas PN, Melamed RD.
europepmc +1 more source
Machine learning applications in genetics and genomics
Maxwell W. Libbrecht+1 more
semanticscholar +1 more source
Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]
Kasmi Z+9 more
europepmc +1 more source
The potential of genomic epidemiology: capitalizing on its practical use for impact in the healthcare setting. [PDF]
Pacchiarini N+4 more
europepmc +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
Large indel detection in region-based phased diploid assemblies from linked-reads. [PDF]
Luo C, Peters BA, Zhou XM.
europepmc +1 more source
Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang+16 more
wiley +1 more source
Academic and clinical perspectives of metagenome sequencing as a diagnostic tool for infectious disease: an interpretive phenomenological study. [PDF]
Trivett H, Darby AC, Oyebode O.
europepmc +1 more source
Characterization of cDNA and genomic sequences corresponding to an embryonic myosin heavy chain.
Muthu Periasamy+4 more
openalex +1 more source