This study leverages the human T2T-CHM13 genome to identify thousands of recent gene duplications, many previously overlooked due to errors in assemblies. We found 218 human duplicated gene families possibly functioning in the brain using genomic and transcriptomic datasets. /2
Busy week! See also "Gene expansions contributing to human brain evolution" from T2T members Daniela Soto and Megan Dennis utilizing the T2T-CHM13 reference assembly www.biorxiv.org/content/10.1...
Genomic drivers of human-specific neurological traits remain largely undiscovered. Duplicated genes expanded uniquely in the human lineage likely contributed to brain evolution, including the increase...
Another great Verkko-enabled preprint out this week "Complex genetic variation in nearly complete human genomes" from the Human Genome Structural Variation Consortium, including variant analysis of 65 near-T2T diploid human genomes: www.biorxiv.org/content/10.1...
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here, we sequence 65 diverse human genomes and buil...
T2T assemblies from none other than @sergek.bsky.social wielding Verkko 🪡
"The formation and propagation of human Robertsonian chromosomes" ROBs are the most common translocation in humans, approx. ~1 per 800 people. Last year we proposed a simple mechanism for ROB formation; This year we prove it by finishing some T2T! New preprint: www.biorxiv.org/content/10.1...
I took the 50 longest contigs, extracted the first and last 2-kb, and checked for telomere repeats. It turned out 30 of the 36 chromosomes are already T2T right out of hifi-asm (i.e., the entire chromosome is one contig).
"Epigenetic control and inheritance of rDNA arrays" New preprint from the T2T acrocentrics team! We find a tight link between methylation and transcription of the rDNAs, including the occasional silencing of entire arrays www.biorxiv.org/content/10.1...
目の前にフられた腹いせに窃盗を繰り返す窃盗犯が出てきて、自分の漫才をt2t剽窃実演。 そのうえ被害者をゲラゲラ笑い物にするテレビ番組まであるとはな・・ オードリー若林「舐めてんのか！」収録中に声荒げ激怒！共演者が制止する異常事態 #ldnewsnews.livedoor.com/article/deta...
9日の「激レアさんを連れてきた。」に、AI研究のプロが登場する。オードリーの漫才もAIで作れるそうで、プロは「めちゃくちゃ面白い」と自負。これに、若林正恭は思わず「舐めてんのか！」と声を荒らげる
T2T-F2F 2024 is a wrap! Great to hear about the new discoveries being enabled by complete genomes, and to meet so many new, enthusiastic T2T’ers. Thanks for the great meeting @khmiga.bsky.social@ucscgenomics.bsky.social !! 🎉
