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SUMMARY:Telomere-to-Telomere Chromosome Assemblies: New Insights Into Geno
 me Biology &amp\; Structure - Dr Karen Miga from Genomics Institute\, Univ
 ersity of California\, Santa Cruz
DTSTART:20210527T160000Z
DTEND:20210527T170000Z
UID:TALK157951@talks.cam.ac.uk
CONTACT:Caroline Newnham
DESCRIPTION:We are entering into an exciting era of genomics where truly c
 omplete\, high-quality assemblies of human chromosomes are available end-t
 o-end\, or from ‘telomere-to-telomere’ (T2T). Recently\, the Telomere-
 to-Telomere (T2T) consortium announced our v1.0 assembly that includes ~20
 0 Mbp of novel sequence compared to GRCh38\, achieves near-perfect sequenc
 e accuracy\, and unlocks the most complex regions of the genome to functio
 nal study. This technological advance\, crediting the confluence of new as
 sembly methods with long read sequencing technologies\, offers a new oppor
 tunity to comprehensively the genomic structure and epigenetic organizatio
 n in the most repeat-dense regions of our chromosomes. In particular\, I w
 ill focus on the release of initial genetic and epigenetic reference of al
 l human centromeric regions. High-resolution study of the pericentromeric 
 sequence content and organization reveals new satellite families\, sites o
 f transposable element insertion\, segmental duplications\, and pericentro
 meric gene predictions. Using unique markers (marker-assisted method) to a
 nchor ultra-long nanopore reads to human centromeric regions regions we re
 port hypomethylated dips at every centromeric region\, as previously descr
 ibed for the T2TX centromere. These sites are shown to coincide with regio
 ns enriched in centromere protein A (CENP-A) and may provide a signature o
 f sites of kinetochore assembly genome-wide. 
LOCATION:Zoom meeting
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