Variant calling and benchmarking in an era of complete human genome sequences

ND Olson, J Wagner, N Dwarshuis, KH Miga… - Nature Reviews …, 2023 - nature.com
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Gmx: Instruction set extensions for fast, scalable, and efficient genome sequence alignment

M Doblas, O Lostes-Cazorla, Q Aguado-Puig… - Proceedings of the 56th …, 2023 - dl.acm.org
Sequence alignment remains a fundamental problem in computer science with practical
applications ranging from pattern matching to computational biology. The ever-increasing …

BLEND: a fast, memory-efficient and accurate mechanism to find fuzzy seed matches in genome analysis

C Firtina, J Park, M Alser, JS Kim… - NAR Genomics and …, 2023 - academic.oup.com
Generating the hash values of short subsequences, called seeds, enables quickly
identifying similarities between genomic sequences by matching seeds with a single lookup …

Genpip: In-memory acceleration of genome analysis via tight integration of basecalling and read map**

H Mao, M Alser, M Sadrosadati, C Firtina… - 2022 55th IEEE/ACM …, 2022 - ieeexplore.ieee.org
Nanopore sequencing is a widely-used high-throughput genome sequencing technology
that can sequence long fragments of a genome into raw electrical signals at low cost …

[PDF][PDF] Scrooge: a fast and memory-frugal genomic sequence aligner for CPUs, GPUs, and ASICs

J Lindegger, D Senol Cali, M Alser… - …, 2023 - academic.oup.com
Motivation Pairwise sequence alignment is a very time-consuming step in common
bioinformatics pipelines. Speeding up this step requires heuristics, efficient implementations …

[HTML][HTML] Advances in Whole Genome Sequencing: Methods, Tools, and Applications in Population Genomics

Y Lu, M Li, Z Gao, H Ma, Y Chong, J Hong… - International Journal of …, 2025 - mdpi.com
With the rapid advancement of high-throughput sequencing technologies, whole genome
sequencing (WGS) has emerged as a crucial tool for studying genetic variation and …

SPARTA: spatial acceleration for efficient and scalable horizontal diffusion weather stencil computation

G Singh, A Khodamoradi, K Denolf, J Lo… - Proceedings of the 37th …, 2023 - dl.acm.org
Fast and accurate climate simulations and weather predictions are critical for understanding
and preparing for the impact of climate change. Real-world climate and weather simulations …

Accelerating genome analysis via algorithm-architecture co-design

O Mutlu, C Firtina - 2023 60th ACM/IEEE Design Automation …, 2023 - ieeexplore.ieee.org
High-throughput sequencing (HTS) technologies have revolutionized the field of genomics,
enabling rapid and cost-effective genome analysis for various applications. However, the …

SieveMem: a computation-in-memory architecture for fast and accurate pre-alignment

T Shahroodi, M Miao, M Zahedi… - 2023 IEEE 34th …, 2023 - ieeexplore.ieee.org
The high execution time of DNA sequence alignment negatively affects many genomic
studies that rely on sequence alignment results. Pre-alignment filtering was introduced as a …

MegIS: High-Performance, Energy-Efficient, and Low-Cost Metagenomic Analysis with In-Storage Processing

NM Ghiasi, M Sadrosadati, H Mustafa… - 2024 ACM/IEEE 51st …, 2024 - ieeexplore.ieee.org
Metagenomics, the study of the genome sequences of diverse organisms in a common
environment, has led to significant advances in many fields. Since the species present in a …