de novo assembly
Genome in a Bottle Consortium Releases Benchmark Data for Challenging Medically Relevant Genes
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The public-private consortium added benchmarking data for 273 difficult-to-analyze but medically important genes previously omitted in its reference.
Human Pangenome Reference Consortium Releases Data From 30 Genomes
At AGBT, UCSC's Karen Miga provided updates on the human pangenome reference project and the telomere-to-telomere consortium's genome assembly work.
The methods, both published in Nature Biotechnology this week, result in completely phased haplotypes, without the need for sequencing parental samples.
Telomere-to-Telomere Team Shares Complete X Chromosome Assembly
Using ultra-long read and other sequence data, researchers came up with a de novo X chromosome assembly that covers parts of the sex chromosome missed in the past.
The public-private partnership has published a paper on a list of indels larger than 50 bp that is already being used to develop new methods.