Results 261 to 270 of about 709,139 (287)

Accelerating Variant Calling with Parallelized DeepVariant

Proceedings of the International Conference on Research in Adaptive and Convergent Systems, 2020
Due to the rapid evolution of the next-generation sequencing (NGS) technology, the sequence of an individual's genome can be determined from billions of short reads at a decreasing cost, which has advanced the fields of medical research and precision medicine with the ability to correlate mutations between genomes.
Chih-Han Yang, Jhih-Wun Zeng, Cheng-Yueh Liu, Shih-Hao Hung   +3 more
openaire   +2 more sources

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Cell Genomics, 2022
Kishwar Shafin, Carlos Flores, Fritz Sedlazeck   +2 more
exaly  

Variant Calling

2022
openaire   +1 more source

A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization

Next-Generation Sequencing (NGS), also known as high-throughput sequencing technologies, has enabled rapid and efficient sequencing of large amounts of DNA and RNA. These technologies have revolutionized the field of genomics, transcriptomics, and proteomics and have been widely used in cancer research, leading to advances in clinical diagnosis and ...
Merve Nur, Koroglu, Kaya, Bilguvar
openaire   +2 more sources

Variant calling: Considerations, practices, and developments

Human Mutation, 2022
Victor Guryev, ŠtĚpánka Zvěřinová
exaly  

Clair3-trio: high-performance Nanopore long-read variant calling in family trios with trio-to-trio deep neural networks.

Briefings in Bioinformatics, 2022
Ruibang Luo, Tak-Wah Lam, Zhenxian Zheng
exaly  

Somatic and Germline Variant Calling from Next-Generation Sequencing Data

Advances in Experimental Medicine and Biology, 2022
Ti-Cheng Chang, Gang Wu, Zhongshan Cheng
exaly  

Variant Calling: Quality Control

2017
Peter N. Robinson, Rosario M. Piro, Marten Jäger   +2 more
openaire   +1 more source

An FPGA Accelerator for Genome Variant Calling

ACM Transactions on Reconfigurable Technology and Systems, 2023
Tiancheng Xu, Scott Rixner, Alan L. Cox
exaly  

18ph+ is a so‐called normal chromosomal variant

Clinical Genetics, 1987
R S, Verma, A, Babu
openaire   +2 more sources