Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

GTF (Gene Transfer Format) and GFF (General Feature Format) are popular file formats
used by bioinformatics programs to represent and exchange information about various …

The GENCODE project annotates human and mouse genes and transcripts supported by
experimental data with high accuracy, providing a foundational resource that supports …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

Short-read RNA sequencing and long-read RNA sequencing each have their strengths and
weaknesses for transcriptome assembly. While short reads are highly accurate, they are …

RNA sequencing using the latest single-molecule sequencing instruments produces reads
that are thousands of nucleotides long. The ability to assemble these long reads can greatly …

We present recount3, a resource consisting of over 750,000 publicly available human and
mouse RNA sequencing (RNA-seq) samples uniformly processed by our new Monorail …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …