Results 251 to 260 of about 709,139 (287)

Joint processing of long- and short-read sequencing data with deep learning improves variant calling. [PDF]

Cell Rep Methods
Gambardella G.
europepmc   +1 more source

Towards Defect Phase Diagrams: From Research Data Management to Automated Workflows

Advanced Engineering Materials, EarlyView.
A research data management infrastructure is presented for the systematic integration of heterogeneous experimental and simulation data required for defect phase diagrams. The approach combines openBIS with a companion application for large‐object storage, automated metadata extraction, provenance tracking and federated data access, thereby supporting ...
Khalil Rejiba, Sang‐Hyeok Lee, Christina Gasper, Martina Freund, Sandra Korte‐Kerzel, Ulrich Kerzel   +5 more
wiley   +1 more source

Reference-Free Variant Calling with Local Graph Construction with ska lo (SKA). [PDF]

Mol Biol Evol
Derelle R, Madon K, Hellewell J, Rodríguez-Bouza V, Arinaminpathy N, Lalvani A, Croucher NJ, Harris SR, Lees JA, Chindelevitch L.   +9 more
europepmc   +1 more source

SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data. [PDF]

BMC Bioinformatics
Nkouamedjo Fankep RC, Söylev A, Kobiela AL, Blom J, Ernst C, Motameny S.   +5 more
europepmc   +1 more source

vvv2_align_SE, vvv2_align_PE/vvv2_display: Galaxy-Based Workflows and Tool Designed to Perform, Summarize and Visualize Variant Calling and Annotation in Viral Genome Assemblies. [PDF]

Viruses
Flageul A, Hirchaud E, Courtillon C, Carnet F, Brown P, Grasland B, Touzain F.   +6 more
europepmc   +1 more source

Hadoop-based solutions for variant calling and variant analysis

, 2017
openaire   +1 more source

DEEPGENTM—A Novel Variant Calling Assay for Low Frequency Variants [PDF]

Genes, 2021
Detection of genetic variants in clinically relevant genomic hot-spot regions has become a promising application of next-generation sequencing technology in precision oncology. Effective personalized diagnostics requires the detection of variants with often very low frequencies. This can be achieved by targeted, short-read sequencing that provides high
Frederic Ris, Bernd Hermann
exaly   +4 more sources

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Optimized variant calling for estimating kinship

Forensic Science International: Genetics, 2022
One of the fundamental goals of forensic genetics is sample attribution, i.e., whether an item of evidence can be associated with some person or persons. The most common scenario involves a direct comparison, e.g., between DNA profiles from an evidentiary item and a sample collected from a person of interest.
August E, Woerner, Sammed, Mandape, Kapema Bupe, Kapema, Tiffany M, Duque, Amy, Smuts, Jonathan L, King, Benjamin, Crysup, Xuewen, Wang, Meng, Huang, Jianye, Ge, Bruce, Budowle   +10 more
openaire   +2 more sources

An FPGA Accelerator for Genome Variant Calling

ACM Transactions on Reconfigurable Technology and Systems, 2022
In genome analysis, it is often important to identify variants from a reference genome. However, identifying variants that occur with low frequency can be challenging, as it is computationally intensive to do so accurately. LoFreq is a widely used program that is adept at identifying low-frequency variants.
Tiancheng Xu, Scott Rixner, Alan L. Cox
openaire   +2 more sources