background: the aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, shafa hospital, affiliated to ahvaz jondidishapur university of medical sciences (ajuoms), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (pnd)....

The implementation of next-generation sequencing (NGS) in clinical oncology has enabled the analysis multiple cancer-associated genes for diagnostics and treatment purposes. detection pathogenic likely mutations is crucial to manage disease. Obtaining mutational profile may be challenging samples with low yields DNA—reflected by type biological material, such as formalin-fixed paraffin-embedded...

Recent large-scale genomic and evolutionary studies have revealed the small but detectable signature of weak selection on synonymous mutations during mammalian evolution, likely acting at the level of translational efficacy (i.e., translational selection). To investigate whether weak selection, and translational selection in particular, plays any role in shaping the fate of synonymous mutations...

Populations of individuals exist in a wide range of sizes, from billions of microorganisms to fewer than ten individuals in some critically endangered species saved on the brink of extinction. In any evolutionary system, there is significant evolutionary pressure to evolve sequences that are both fit and robust; at high mutation rates, individuals with greater mutational robustness can outcompe...

Intra-population heterogeneity is commonly observed in natural and cellular populations and has profound influence on their evolution. For example, intra-tumor heterogeneity is prevalent in most tumor types and can result in the failure of tumor therapy. However, the evolutionary process of heterogeneity remains poorly characterized at both genotypic and phenotypic level. Here we study the evol...

Background Recent studies have shown that KRAS mutations are negative predictors of benefit from both adjuvant chemotherapy and anti-EGFR directed therapies for non-small cell lung carcinoma (NSCLC). Needle core biopsy, cytology specimen and resected tissue have all been used for KRAS mutational analysis of malignant lung tumors. However, studies validating the correlation between needle core b...

Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...

Summary: Mutational processes leave characteristic footprints in genomic DNA. The MutationalPatterns R package provides an easy-to-use toolset for the characterization and visualization of mutational patterns in base substitution catalogues of e.g. tumour samples or DNArepair deficient cells. The package covers a wide range of patterns including: mutational signatures, transcriptional strand bi...

In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because the rate of mutation accumulation is determined partly by the mutation rate, the risk and rate o...

Genomic structural variations are an important source of genetic diversity. Copy number variations (CNVs), gains and losses of large regions of genomic sequence between individuals of a species, have been associated with a wide variety of phenotypic traits. However, in cattle, as well as many other species, relatively little is understood about CNV, including frequency of CNVs in the genome, si...