gAIRR-Suite is a new toolkit profiling genes encoding the Adaptive Immune Receptor Repertoire (AIRR). We combined experimental and computational methods to genotype both documented and novel V, D, J genes in the human germline genome. 1/
https://t.co/IpqRSabiRA
1/ Excited to share our preprint ImpuT2T: a pangenome-based assembly patching tool!
ImpuT2T scaffolds draft human assemblies with a pangenome (HPRC2) and patches gaps via sequence identity between contigs and reference haplotypes.
https://t.co/sQHcOhVkfF
6/ Although runtime scales linearly with the number of haplotypes, ImpuT2T is highly parallelizable:
- Runs in ~15 hours (48 threads) on the full 470-haplotype pangenome.
- If your compute node can handle de novo assembly, it can run ImpuT2T with HPRC2.
Excited to announce Splam is now published in @GenomeBiology! Splam, trained on thousands of splice junctions from GTEx, is your go-to tool for scoring splice junctions from alignment or annotation files.
@elapertea@StevenSalzberg1@alan_mayonnaise
https://t.co/52pYjGhuRk
Stellar work by @e_engelbrecht1 (@olrodriguez_ ; @SmithLab_UofL) -- Resolving haplotype variation and complex genetic architecture in the human immunoglobulin kappa chain locus in individuals of diverse ancestry https://t.co/TxALus507y
Recent alignment methods aim to reduce reference bias, where reads with non-ref alleles fail to align correctly. However, there's a lack of methods for analyzing reference bias. Here we present biastools, which measures and categorizes reference bias. 1/
https://t.co/Xcp1AoKkob