genome-analysis topic
hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
score-assemblies
Snakemake workflow for scoring and comparing multiple bacterial genome assemblies (Illumina, Nanopore) to reference genome(s)
biocommons.seqrepo
non-redundant, compressed, journalled, file-based storage for biological sequences
HaMMLET
Fast Bayesian Hidden Markov Model with Wavelet Compression
RawHash
RawHash can accurately and efficiently map raw nanopore signals to reference genomes of varying sizes (e.g., from viral to a human genomes) in real-time without basecalling. Described by Firtina et al...
GALA
Long-reads Gap-free Chromosome-scale Assembler
MSPC
Using combined evidence from replicates to evaluate ChIP-seq peaks
DNABERT_2
[ICLR 2024] DNABERT-2: Efficient Foundation Model and Benchmark for Multi-Species Genome
TeamTeri
Bioinformatics on GCP, AWS or Azure
BLEND
BLEND is a mechanism that can efficiently find fuzzy seed matches between sequences to significantly improve the performance and accuracy while reducing the memory space usage of two important applica...