Results 111 to 120 of about 296,746 (277)

De novo assembly of middle-sized genome using MinION and Illumina sequencers

BMC Genomics, 2018
Background The plastid acquisition by secondary endosymbiosis is a driving force for the algal evolution, and the comparative genomics was required to examine the genomic change of symbiont.
Ryuhei Minei, Ryo Hoshina, Atsushi Ogura
doaj   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

RNA-seq read mapping summary.

, 2015
RNA-seq read mapping summary.
Eva Gluenz (124256), Steven Kelly (202788), Michael Fiebig (811799)   +2 more
core   +1 more source

Stranded Mapping from Long Reads v2

, 2018
This protocol demonstrates how to convert raw long reads produced using a strand-specific sequencing protocol (e.g. ONT's strand-switching protocol) into strand-specific mapped reads. The general ides is to use LAST to identify the adapter orientation relative to the genome, and then use that information to split BAM files up and recombine them to ...
openaire   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Methods for Long Read RNA-Seq Transcriptomics

While short read RNA-seq dominated the field for decades, long read RNA-seq is particularly useful for isoform-level expression analysis, genome annotation, detecting novelly splicing transcripts, identifying exact breakpoints in gene fusions, and ...
Loving, Rebekah Kiana
core   +1 more source

Summary of read mapping statistics.

, 2016
Summary of read mapping statistics.
Yu Wang (12152), Hongxia Li (493545), Qixin Sun (48120), Yingyin Yao (48116)   +3 more
core   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Benchmarking long-read variant calling in diploid and polyploid genomes: insights from human and plants

BMC Genomics
Accurate characterization of genetic variation is fundamental to genomics. While long-read sequencing technologies promise to resolve complex genomic regions and improve variant detection, their application in complex genomes has not been well validated.
Yoshinori Fukasawa
doaj   +1 more source

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

HGG Advances
Summary: Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss-of-function variants in TCOF1, POLR1B, POLR1C, or POLR1D. Here, we describe two previously undiagnosed paternal half-siblings affected with clinical TCS, and their
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots, Herma C. van der Linde, Banin Mohseni, Leontine van Unen, Mark Drost, Mark Nellist, Marieke Koekkoek, Rachel Schot, Henriette W. de Gier, Mieke Pleumeekers, Tahsin Stefan Barakat, Tjitske Kleefstra, Marjolein Weerts, Marieke F. van Dooren, Tjakko J. van Ham   +16 more
doaj   +1 more source