Symphonizing pileup and full-alignment for deep learning-based long-read variant calling

Spatial Pyramid Pooling in Deep Convolutional Networks for Visual Recognition

Kaiming He, Xiangyu Zhang, Shaoqing Ren et al. · IEEE Transactions on Pattern Analysis and Machine Intelligence · 2015 · 11.4K citations

Computing, Computer Science, Computer Vision +16

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin, Pi-Chuan Chang, David H. Alexander et al. · Nature Biotechnology · 2018 · 1.9K citations

Life Sciences, Bioinformatics, Genetics +14

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

Kishwar Shafin, Trevor Pesout, Ryan Lorig-Roach et al. · Nature Biotechnology · 2020 · 654 citations · Full text

Life Sciences, Bioinformatics, High-performance Computing +16

W <scp>hats</scp> H <scp>ap</scp> : Weighted Haplotype Assembly for Future-Generation Sequencing Reads

Murray Patterson, Tobias Marschall, Nadia Pisanti et al. · Journal of Computational Biology · 2015 · 526 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

Life Sciences, Bioinformatics, Genetics +16