@ngsstudent.bsky.social
Reposted
Next talk by Julian Lucas from Karen Miga's lab presenting on Accurate representation of globally diverse human haplotypes as part of the Human Pangenome Reference Consortium release 2 encompassing 230 samples with >6k T2T highly continuous chromosomes and error rate ~1 per 500k bases #ASHG25
October 17, 2025 at 9:34 PM
Next talk by Julian Lucas from Karen Miga's lab presenting on Accurate representation of globally diverse human haplotypes as part of the Human Pangenome Reference Consortium release 2 encompassing 230 samples with >6k T2T highly continuous chromosomes and error rate ~1 per 500k bases #ASHG25
Reposted
#eshg2025 assorative mating gives long range LD - carried out interchromsomal phasing using relatives to construct maternal and paternal PRSs. Used UK Bioank to test in 270K slightly related individuals comparing it to pubmed.ncbi.nlm.nih.gov/30988446/ odd vs even chromsome prs method from Yengo
May 24, 2025 at 5:57 PM
#eshg2025 assorative mating gives long range LD - carried out interchromsomal phasing using relatives to construct maternal and paternal PRSs. Used UK Bioank to test in 270K slightly related individuals comparing it to pubmed.ncbi.nlm.nih.gov/30988446/ odd vs even chromsome prs method from Yengo
Reposted
The minda tool helps with SV benchmarking and merging by decomposing SVs into start and end records, supporting other types of SVs beyond primarily germine indels processed by truvari, SVanalyzer, SURVIVOR, Jasmine, etc. github.com/KolmogorovLa...
April 7, 2025 at 8:52 AM
The minda tool helps with SV benchmarking and merging by decomposing SVs into start and end records, supporting other types of SVs beyond primarily germine indels processed by truvari, SVanalyzer, SURVIVOR, Jasmine, etc. github.com/KolmogorovLa...