MAGERI: Computational pipeline for molecular-barcoded targeted resequencing
نویسندگان
چکیده
منابع مشابه
MAGERI: Computational pipeline for molecular-barcoded targeted resequencing
Unique molecular identifiers (UMIs) show outstanding performance in targeted high-throughput resequencing, being the most promising approach for the accurate identification of rare variants in complex DNA samples. This approach has application in multiple areas, including cancer diagnostics, thus demanding dedicated software and algorithms. Here we introduce MAGERI, a computational pipeline tha...
متن کاملMolecular Inversion Probes for targeted resequencing in non-model organisms.
Applications that require resequencing of hundreds or thousands of predefined genomic regions in numerous samples are common in studies of non-model organisms. However few approaches at the scale intermediate between multiplex PCR and sequence capture methods are available. Here we explored the utility of Molecular Inversion Probes (MIPs) for the medium-scale targeted resequencing in a non-mode...
متن کاملOverlapping Pools for High Throughput Targeted Resequencing
Resequencing genomic DNA from pools of individuals is an effective strategy to detect new variants in targeted regions and compare them between cases and controls. There are numerous ways to assign individuals to the pools on which they are to be sequenced. The naïve, disjoint pooling scheme (many individuals to one pool) in predominant use today offers insight into allele frequencies, but does...
متن کاملCONTRA: copy number analysis for targeted resequencing
MOTIVATION In light of the increasing adoption of targeted resequencing (TR) as a cost-effective strategy to identify disease-causing variants, a robust method for copy number variation (CNV) analysis is needed to maximize the value of this promising technology. RESULTS We present a method for CNV detection for TR data, including whole-exome capture data. Our method calls copy number gains an...
متن کاملMIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
UNLABELLED Molecular inversion probes (MIPs) enable cost-effective multiplex targeted gene resequencing in large cohorts. However, the design of individual MIPs is a critical parameter governing the performance of this technology with respect to capture uniformity and specificity. MIPgen is a user-friendly package that simplifies the process of designing custom MIP assays to arbitrary targets. ...
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: PLOS Computational Biology
سال: 2017
ISSN: 1553-7358
DOI: 10.1371/journal.pcbi.1005480