Genome wide association studies (GWAS) for type 2 diabetes (T2D) undertaken in European and Asian ancestry populations have yielded dozens of robustly associated loci. However, the genomics of T2D remains largely understudied in sub-Saharan Africa (SSA),
Adebowale eAdeyemo+24 more
doaj +1 more source
Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients
Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease.
Heba Amin Hassan+4 more
doaj +1 more source
Examining resilience of individuals living with sickle cell disease in the COVID-19 pandemic
Background The COVID-19 pandemic has impacted the physical and mental health of people worldwide including those living with genetic conditions. Sickle cell disease (SCD) is a hematologic chronic disease that causes multisystem damage and morbidity ...
Ashley J. Buscetta+6 more
doaj +1 more source
Rubbish DNA: The functionless fraction of the human genome [PDF]
Because genomes are products of natural processes rather than intelligent design, all genomes contain functional and nonfunctional parts. The fraction of the genome that has no biological function is called rubbish DNA. Rubbish DNA consists of junk DNA, i.e., the fraction of the genome on which selection does not operate, and garbage DNA, i.e ...
arxiv
Genomic regulatory architecture of human embryo retroviral LTR elements affecting evolution, development, and pathophysiology of Modern Humans [PDF]
Two distinct families of pan-primate endogenous retroviruses, namely HERVL and HERVH, infected primates germline, colonized host genomes, and evolved into the global retroviral genomic regulatory dominion (GRD) operating during human embryogenesis (HE).
arxiv
Complete Genome Sequence of a Divergent Human Rhinovirus C Isolate from an Infant with Severe Community-Acquired Pneumonia in Colorado, USA. [PDF]
Here, we report the genome sequence of a divergent human rhinovirus C isolate identified from an infant with a severe community-acquired respiratory infection. RNA sequencing performed on an Illumina platform identified reads aligning to human rhinovirus
DeRisi, Joseph L+4 more
core
Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha+6 more
wiley +1 more source
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power+11 more
doaj +1 more source
Mito-SiPE is a mitochondrial DNA (mtDNA) enrichment method that can derive high-quality mtDNA for rare heteroplasmy analysis, without relying on PCR or probes.
Darren J. Walsh+6 more
doaj +1 more source
Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]
Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda+35 more
core +1 more source