Recently, HiFi sequencing with PacBio has offered an alternative to both short-read shotgun metagenomics and partial 16S gene sequencing, providing richer information from shotgun data and higher taxonomic resolution from full length 16S sequences. Here, we use 12 human microbiome samples from 6 do...
To test whether the spiRNA profile is evolutionarily conserved, we performed long-read and short read-sequencing on RNAs from purified human sperm, which have significantly morphologically diverged from mouse sperm (Fig. 4c). Sperm are selected for their species-specific fertilization environments and...
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many structural variants (SVs), particularly large chromosomal alterations. To characterize missing SVs in short-read whole genomes, we analyzed ‘loose ends’—local violat
were made up of reads with accurate splice sites supported by short reads. For transcripts containing novel splicing junctions, we mapped the short reads to the novel transcripts and ≥ 3 short-read support means that the transcripts have short-read sequencing support. For intergenic, intronic...
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder remai
(<300 bp) do not usually enable complete genome assembly. Long-read sequencing greatly assists with resolving complex bacterial genomes, particularly when combined with short-read Illumina data (hybrid assembly). However, it is not clear how different long-read sequencing methods affect hybrid ...
Thus, the short read pairs (< 1 kb) generated by these paired-end sequencing technologies are limited in the assembly of complex genomes, and repetitive regions (> 1 kb) are usually missing or misassembled, leading to fragmented and incomplete genomes. Therefore, longer paired-end reads ...
Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×–40× genome coverage using the Pacific Biosciences ...
Current clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether
Zero Gold kits (Illumina) according to the manufacturer’s protocols. cDNA validation and normalization were performed using RT-PCR and Quant-iT PicoGreen (Invitrogen). Cluster generation and high-throughput sequencing were performed on a HiSeq 2500 (Illumina), using the paired-end 100 bp ...