Human germline mutations arise anew during meiosis in every generation. Such spontaneously occurring genetic variants are termed de novo mutations. Although the introduction of microarray based approaches led to the discovery of numerous de novo copy number variants underlying a range of human genetic conditions, de novo single nucleotide variants (SNVs) remained refractory to analysis at the w...

To the Editor : In the 16 years since the discovery of BRCA1 and BRCA2, only one de novo mutation in the BRCA1 gene and four de novo mutations in the BRCA2 gene have been reported in the literature (1–5). No systematic study of de novo mutation prevalence has been performed. This is surprising, given that the rates of de novo mutations can be as high as 30–50% for genes such as NF1, RET, and AP...

The De-Novo programming problem proposed by Zeleny is well-known for its value on designing an optimal system by extending existed resources instead of finding the optimum in a given system with fixed resources. Since few papers are dedicated to explore the De-Novo programming problem with multiple stages and its resolution approach, the De-Novo programming problem is innovatively extended to a...

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...

An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We used Illumina microarrays to genotype 368 BD probands, 76 SZ probands and all th...

Novel genes arising from random DNA sequences (de novo genes) have been suggested to be widespread in the genomes of different organisms. However, our knowledge about the origin and evolution of de novo genes is still limited. To systematically understand the general features of de novo genes, we established a robust pipeline to analyze >20,000 transcript-supported coding sequences (CDSs) from ...

The present report was addressed to study the influence of sphingolipid metabolism in determining cellular fate. In nonstimulated proliferating Madin-Darby canine kidney (MDCK) cells, sphingolipid de novo synthesis is branched mainly to a production of sphingomyelin and ceramide, with a minor production of sphingosylphosphocholine, ceramide 1-phosphate, and sphingosine 1-phosphate. Experiments ...

BACKGROUND Some patients with pelvic organ prolapse may suffer from lower urinary tract symptoms (LUTS), especially stress urinary incontinence (SUI) named de novo SUI after pelvic floor reconstruction. This study aimed to investigate the incidence and risk factors of de novo SUI. METHODS This is a nested case-control study of 533 patients who underwent pelvic floor reconstruction due to pelv...