Accurate detection of complex structural variations using single-molecule sequencing
نویسندگان
چکیده
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 کاملINC-Seq: accurate single molecule reads using nanopore sequencing
BACKGROUND Nanopore sequencing provides a rapid, cheap and portable real-time sequencing platform with the potential to revolutionize genomics. However, several applications are limited by relatively high single-read error rates (>10 %), including RNA-seq, haplotype sequencing and 16S sequencing. RESULTS We developed the Intramolecular-ligated Nanopore Consensus Sequencing (INC-Seq) as a stra...
متن کاملSuccessful noninvasive trisomy 18 detection using single molecule sequencing.
BACKGROUND Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates. Detection of fetal trisomy 18 and 13 has been reported as well but seems to be less accurate with the use of this approach. The reduced accuracy can be explained by PCR-introduced guanine-cytosine (GC) bias influencing sequenc...
متن کاملUlysses: accurate detection of low-frequency structural variations in large insert-size sequencing libraries
MOTIVATION The detection of structural variations (SVs) in short-range Paired-End (PE) libraries remains challenging because SV breakpoints can involve large dispersed repeated sequences, or carry inherent complexity, hardly resolvable with classical PE sequencing data. In contrast, large insert-size sequencing libraries (Mate-Pair libraries) provide higher physical coverage of the genome and g...
متن کاملSingle-molecule sequencing: sequence methods to enable accurate quantitation.
Helicos Single-Molecule Sequencing provides a unique view of genome biology through direct sequencing of cellular and extracellular nucleic acids in an unbiased manner, providing both quantitation and sequence information. Using a simple sample preparation, involving no ligation or amplification, genomic DNA is sheared, tailed with poly-A and hybridized to the flow-cell surface containing oligo...
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: 2018
ISSN: 1548-7091,1548-7105
DOI: 10.1038/s41592-018-0001-7