A practical guide to identifying associations between tandem repeats and complex human traits using consensus genotypes from multiple tools. #TandemRepeats #HumanTraits @natprot.nature.com
www.nature.com/articles/s41...

TRFill: synergistic use of HiFi and Hi-C sequencing enables accurate assembly of tandem repeats for population-level analysis. #HiFi #HiC #Sequencing #Genomics #Assembly #TandemRepeats #GapClosing #GenomeBiology
@pacbio.bsky.social
genomebiology.biomedcentral.com/articles/10....

Pytrf: a python package for finding tandem repeats from genomic sequences. #TandemRepeats #Python #Bioinformatics #Genomics #BMCbioinformatics 🧬 🖥️
bmcbioinformatics.biomedcentral.com/articles/10....

🔬 Miss last week’s Science Matters seminar? Catch the recording of Dr. Paul Valdmanis from ‪@uwdeptmedicine.bsky.social‬ as he shares how his lab is uncovering the role of tandem repeat expansions in neurological disease. 🎥 Watch here: youtu.be/30-uP7Q_qxk
#Genetics #Neurology #TandemRepeats

Pytrf: a python package for finding tandem repeats from genomic sequences - BMC Bioinformatics Background Tandem repeats (TRs) are major sources of genetic variation and important genetic markers. Their expansions are not only involved in gene expression regulation but also associated with…

Pytrf: a python package for finding tandem repeats from genomic sequences. #TandemRepeats #Bioinformatics #Genomics #Python #BMCbioinformatics 🧬 🖥️
bmcbioinformatics.biomedcentral.com/articles/10....

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing Abstract. Tandem repeat sequences comprise approximately 8% of the human genome and are linked to more than 50 neurodegenerative disorders. Accurate charac

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing. #TandemRepeats #Bioinformatics 🧬 🖥️
academic.oup.com/nar/advance-...