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Resolving the haplo...
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Siga, HumamKTH,Science for Life Laboratory, SciLifeLab,Genteknologi
(författare)
Resolving the haplotype complexity of colorectal cancer genomes with droplet barcode sequencing
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Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:kth-282291
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https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-282291URI
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Språk:engelska
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Sammanfattning på:engelska
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Klassifikation
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Ämneskategori:vet swepub-contenttype
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Ämneskategori:ovr swepub-publicationtype
Anmärkningar
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QC 20240215
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Cancer genomes are prone to elevated rates of genomic alterations. Massive parallel sequencing technologies can answer some questions related to these aberrations; however, they remain limited when it comes to resolving the haplotype information. In this study, we applied the linked-read droplet barcode sequencing (DBS) technology to resolve the haplotype complexity of colorectal cancer genomes, using paired tumor/normal samples. The results show short somatic variants associated with almost all TCGA-identified oncogenic pathways. Several cancer-related genes had multiple variants in either one or both haplotypes. In the tumor suppressor gene APC, two nonsense variants ~2kb apart on separate haplotypes were identified in one patient. Additionally, a number haplotype-resolved somatic structural variants (SV) and copy number alterations (CNA) were detected and correlated with the small variants. The study demonstrates that DBS technology can characterize complex genetic variations in a haplotype context, revealing an extra layer of cancer genome complexity.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Höjer, PontusKTH,Genteknologi,Science for Life Laboratory, SciLifeLab(Swepub:kth)u1rf83fx
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Pourbozorgi, ParhamKTH,Genteknologi,Science for Life Laboratory, SciLifeLab(Swepub:kth)u12jfap1
(författare)
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Aghelpasand, HoomanKTH,Genteknologi,Science for Life Laboratory, SciLifeLab(Swepub:kth)u186u844
(författare)
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Käller, MaxKTH,Science for Life Laboratory, SciLifeLab,Genteknologi(Swepub:kth)u17gryzz
(författare)
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Hartman, JohanKarolinska Institute (KI), Department of Oncology-Pathology, Solna, Sweden
(författare)
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Williams, Cecilia,Professor,1969-KTH,Science for Life Laboratory, SciLifeLab,Cellulär och klinisk proteomik(Swepub:kth)u1ygqmuy
(författare)
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Ahmadian, AfshinKTH,Genteknologi,Science for Life Laboratory, SciLifeLab(Swepub:kth)u1kjb6gb
(författare)
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KTHScience for Life Laboratory, SciLifeLab
(creator_code:org_t)
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