4 results found Sort:

tjiangHIT
cuteSV tjiangHIT
36
248
mit
6
Long read based human genomic structural variation detection with cuteSV
pacbio-data oxford-nanopore structural-variation
Created 2018-09-11
294 commits to master branch, last one 5 months ago
bcgsc
arcs bcgsc
16
91
gpl-3.0
25
🌈Scaffold genome sequence assemblies using linked or long read sequencing data
graph genome science scaffold assembler 10xgenomics c-plus-plus pacbio-data bioinformatics oxford-nanopore nanopore-sequencing
Created 2016-06-06
272 commits to master branch, last one 14 hours ago
PacificBiosciences
HiPhase PacificBiosciences
4
70
other
7
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
hifi phasing variants pacbio-data structural-variants short-tandem-repeats
Created 2023-02-14
50 commits to main branch, last one about a month ago
deepomicslab
SpecHLA deepomicslab
9
36
mit
3
SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, and -DRB1 genes. Also, it supports both short- and long-read da...
loh phase cancer immunity nanopore haplotype hla-typing pacbio-data hla-sequence reads-binning local-assembly allelic-imbalance genotype-frequency loss-of-heterozygosity human-leukocyte-antigens
Created 2021-05-07
337 commits to master branch, last one about a month ago