Results 41 to 50 of about 9,152,640 (254)

Applications of long-read sequencing to Mendelian genetics

Genome Medicine, 2023
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder ...
Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler   +2 more
doaj   +1 more source

Opportunities and challenges in long-read sequencing data analysis [PDF]

, 2020
Long-read technologies are overcoming early limitations in accuracy and throughput, broadening their application domains in genomics. Dedicated analysis tools that take into account the characteristics of long-read data are thus required, but the fast ...
Amarasinghe, SL, Zappia, L, Su, S, Ritchie, ME, Gouil, Q, Dong, X   +5 more
core   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

Can long-read sequencing tackle the barriers, which the next-generation could not? A review

Pathology and Oncology Research
The large-scale heterogeneity of genetic diseases necessitated the deeper examination of nucleotide sequence alterations enhancing the discovery of new targeted drug attack points.
Nikolett Szakállas, Barbara K. Barták, Gábor Valcz, Gábor Valcz, Zsófia B. Nagy, István Takács, Béla Molnár   +6 more
doaj   +1 more source

Functional comparison of EncB and EncC cargo proteins in iron storage within the Myxococcus xanthus encapsulin

FEBS Letters, EarlyView.
Encapsulins are protein nanocompartments that play an important role in iron storage. In the Myxococcus xanthus encapsulin system, two cargo proteins called EncB and EncC contribute to iron mineralization. Here, we show that EncB and EncC generate iron‐containing minerals with distinct chemical compositions, suggesting that the composition of stored ...
Harry B. McDowell, Thomas Walther, Egbert Hoiczyk   +2 more
wiley   +1 more source

Comparison of short-read and long-read sequencing of TprK.

, 2020
Comparison of the determination of identical amino acid sequences in each of the variable regions of TprK through short-read (Illumina) and long-read (PacBio CCS) sequencing approaches for A) the initial strain, UW-148B and B) the reinfecting strain, UW ...
Amin Addetia (8201538), Lauren C. Tantalo (8677368), Christina M. Marra (8677374), Hong Xie (133048), Meei-Li Huang (342097), Alexander L. Greninger (8677377), Michelle J. Lin (8677371)   +6 more
core   +1 more source

High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing [PDF]

, 2017
Accurate annotation of genes and their transcripts is a foundation of genomics, but currently no annotation technique combines throughput and accuracy.
Abad, Amaya, Barbara Uszczynska-Ratajczak, Thomas R Gingeras, Lagarde, J., Sílvia Pérez-Lluch, Gingeras, Thomas R, Lagarde, Julien, Johnson, R., Jennifer Harrow, Uszczynska-Ratajczak, Barbara, Silvia Carbonell, Guigó Serra, Roderic, Gingeras, T. R., Amaya Abad, Frankish, Adam, Davis, C., Uszczynska-Ratajczak, B., Frankish, A., Carrie Davis, Pérez-Lluch, Sílvia, Gingeras, Thomas R., Adam Frankish, Perez-Lluch, S., Guigo, R., Julien Lagarde, Harrow, J., Carbonell, Silvia, Rory Johnson, Harrow, Jennifer, Davis, Carrie, Johnson, Rory, Guigo, Roderic, Roderic Guigo, Carbonell, S., Davis, Carrie A., Abad, A.   +35 more
core   +3 more sources

Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing

Advanced Science
Despite the well‐documented mutation spectra of β‐thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated.
Yuhua Ye, Chao Niu, Aiping Mao, Lang Qin, Jiahan Zhan, Weijie Chen, Zhentian Liu, Tiantian Xie, Qianqian Zhang, Jiaqi Li, Li Huang, Wanli Meng, Yumeng Liu, Liuhua Liao, Junqin Cai, Riyang Liu, Xinhua Zhang, Lihong Zeng, Yaoyun Li, Bin Lin, Kui Li, Xiaoyun Hua, Binbin Huang, Honggui Qin, Yueyan Huang, Zhijing Huang, Jinquan Lao, Xiang Qu, Juanjuan Chen, Xiaoqin Feng, Qiujun Liu, Wanying Lin, Xiaoman Zhou, Yidan Liang, Xingjiang Long, Jiaofeng Qin, Lixiang Yan, Weijian Zhu, Lian Yu, Chengwu Fan, Deguo Tang, Tianyu Zhong, Jufang Tan, Zhilin Ren, Xiangmin Xu   +44 more
doaj   +1 more source

Application of long-read sequencing to the detection of structural variants in human cancer genomes

Computational and Structural Biotechnology Journal, 2021
In recent years, the so-called long-read sequencing technology has had a substantial impact on various aspects of genome sciences. Here, we introduce recent studies of cancerous structural variants (SVs) using long-read sequencing technologies, namely ...
Yoshitaka Sakamoto, Suzuko Zaha, Yutaka Suzuki, Masahide Seki, Ayako Suzuki   +4 more
doaj   +1 more source

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

FEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge, Vivian Pogenberg, Alexander Baumgart, Bente Siebels, Hartmut Schlüter, Michael Hecht‐Bucher, Aymelt Itzen   +6 more
wiley   +1 more source