GitHub2y
Pangenome of human nonreference sequences from population-scale long-read sequencing
And the pipeline can be used in other cohort with long-read sequencing. a, Long-read sequencing data from different platforms are de novo assembled and polished. b, The NRSs are anchored to GRCh38.
GEN6d
Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis
Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.
GitHub1y
High-throughput RNA isoform sequencing using programmable cDNA concatenation
The pipelines to analyze the raw sequencing data for this paper are automated using Cromwell and Workflow Description Language WDL. The full pipeline for the analysis used for this paper can be found ...
Long-read sequencing revolutionizes diagnosis of rare diseases
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
jmg.bmj5y
Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions
We aim to evaluate the use of long-read sequencing in combination with haplotype ... Detection of inversion break points and validation by Sanger sequencing SVs were detected with NGMLR-Sniffles ...