The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

… been prioritized to address such questions, including the following: (a) the evolution and
molecular mechanisms underlying genetic and temperature-dependent sex determination; (b) …

… Bidirected sequence graph (A) being unfolded into a directed acyclic graph (B), in preparation
for partial-order alignment. Node 6 is a reversed view of node 1, node 7 is a reversed view …

… (B) The ONT-assisted graph traversal for the 2p11 locus is given by numerical order. Based
on low … (B to D) Enlargements corresponding to regions of the genome featured in Fig. 2, …

High-quality and complete reference genome assemblies are fundamental for the application
of genomics to biology, disease, and biodiversity conservation. However, such assemblies …

The accurate identification and description of the genes in the human and mouse genomes
is a fundamental requirement for high quality analysis of data informing both genome biology …

We report the sequencing and assembly of a reference genome for the human GM12878
Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. …

Here the Human Pangenome Reference Consortium presents a first draft of the human
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …

Launched in 2001 to showcase the draft human genome assembly, the UCSC Genome
Browser database ( http://genome.ucsc.edu ) and associated tools continue to grow, providing a …

… (b) Scatter plot showing the Pearson correlation between the results of the TCGA best-practices
pipeline and the CGL pipeline. 10,000 randomly selected sample and/or gene pairs …