Results 101 to 110 of about 10,781,581 (397)

Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans

open access: yesFrontiers in Genetics, 2015
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

open access: yesEgyptian Journal of Medical Human Genetics, 2020
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

open access: yesBMC Psychology, 2022
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]

open access: yesarXiv, 2016
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]

open access: yesarXiv, 2023
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]

open access: yes, 2017
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

open access: yesMolecular Oncology, EarlyView.
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

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

open access: yesOrphanet Journal of Rare Diseases, 2019
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 sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing

open access: yesCommunications Biology, 2022
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]

open access: yes, 2013
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

Home - About - Disclaimer - Privacy