منابع مشابه
Accurate detection of complex structural variations using single molecule sequencing
Structural variations (SVs) are the largest source of genetic variation, but remain poorly understood because of limited genomics technology. Single molecule long read sequencing from Pacific Biosciences and Oxford Nanopore has the potential to dramatically advance the field, although their high error rates challenge existing methods. Addressing this need, we introduce open-source methods for l...
متن کاملUnderstanding genome structural variations
Genome structural variations (SVs) in the human genome are defined as DNA sequence polymorphisms of at least a few dozen or few hundred bases in length and include deletions, duplications, inversions, translocation, retroelement insertions, and more complex rearrangements that could be thought of as consisting of multiple fragments from the just listed categories. More bases in a personal genom...
متن کاملsingle nucleotide polymorphism and asthma: from conformational variations to structural alternations
background: asthma is the main reason of disability, health resource exploitation and low quality of life for those who are affected. it is estimated that nearly 300 million people in the world are suffering from asthma. studies have identified 18 genomic regions and more than 100 genes associated with asthma. among these candidate genes, il-17f plays a very interesting role in asthma. this stu...
متن کاملCataloguing Plant Genome Structural Variations
Structural variation (SV) is a type of genetic variation identified through the comparison of genome structures which often have direct and significant associations with phenotypic variations. Building on the next-generation sequencing (NGS) technologies, research on plant structural variations are gaining momentum and have revolutionized our view on the functional impact of the ‘hidden’ divers...
متن کاملStructural variations in plant genomes
Differences between plant genomes range from single nucleotide polymorphisms to large-scale duplications, deletions and rearrangements. The large polymorphisms are termed structural variants (SVs). SVs have received significant attention in human genetics and were found to be responsible for various chronic diseases. However, little effort has been directed towards understanding the role of SVs...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Methods
سال: 2020
ISSN: 1548-7091,1548-7105
DOI: 10.1038/s41592-020-0787-y