[HTML][HTML] Genome-wide profiling of genetic variation at tandem repeat from long reads
Tandem repeats are frequent across the human genome, and variation in repeat length has
been linked to a variety of traits. Recent improvements in long read sequencing
technologies have the potential to greatly improve TR analysis, especially for long or
complex repeats. Here we introduce LongTR, which accurately genotypes tandem repeats
from high fidelity long reads available from both PacBio and Oxford Nanopore Technologies.
LongTR is freely available at https://github. com/gymrek-lab/longtr.
been linked to a variety of traits. Recent improvements in long read sequencing
technologies have the potential to greatly improve TR analysis, especially for long or
complex repeats. Here we introduce LongTR, which accurately genotypes tandem repeats
from high fidelity long reads available from both PacBio and Oxford Nanopore Technologies.
LongTR is freely available at https://github. com/gymrek-lab/longtr.
Abstract
Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve TR analysis, especially for long or complex repeats. Here we introduce LongTR, which accurately genotypes tandem repeats from high fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https://github. com/gymrek-lab/longtr.
ncbi.nlm.nih.gov
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