Results 41 to 50 of about 2,613,419 (309)

Genomic targets for high-resolution inference of kinship, ancestry and disease susceptibility in orang-utans (genus: Pongo)

BMC Genomics, 2020
Background Orang-utans comprise three critically endangered species endemic to the islands of Borneo and Sumatra. Though whole-genome sequencing has recently accelerated our understanding of their evolutionary history, the costs of implementing routine ...
Graham L. Banes, Emily D. Fountain, Alyssa Karklus, Hao-Ming Huang, Nian-Hong Jang-Liaw, Daniel L. Burgess, Jennifer Wendt, Cynthia Moehlenkamp, George F. Mayhew   +8 more
doaj   +1 more source

From Information Overload to Actionable Insights: Digital Solutions for Interpreting Cancer Variants from Genomic Testing

Journal of Molecular Pathology, 2021
Given the increase in genomic testing in routine clinical use, there is a growing need for digital technology solutions to assist pathologists, oncologists, and researchers in translating variant calls into actionable knowledge to personalize patient ...
Stephanie J. Yaung, Adeline Pek
doaj   +1 more source

Sequence-to-Sequence Resources for Catalan

CoRR, 2022
In this work, we introduce sequence-to-sequence language resources for Catalan, a moderately under-resourced language, towards two tasks, namely: Summarization and Machine Translation (MT). We present two new abstractive summarization datasets in the domain of newswire.
Ona de Gibert, Ksenia Kharitonova, Blanca Calvo Figueras, Jordi Armengol-Estapé, Maite Melero   +4 more
openaire   +3 more sources

Comparison of SARS-CoV-2 sequencing using the ONT GridION and the Illumina MiSeq

BMC Genomics, 2022
Background Over 4 million SARS-CoV-2 genomes have been sequenced globally in the past 2 years. This has been crucial in elucidating transmission chains within communities, the development of new diagnostic methods, vaccines, and antivirals.
Derek Tshiabuila, Jennifer Giandhari, Sureshnee Pillay, Upasana Ramphal, Yajna Ramphal, Arisha Maharaj, Ugochukwu Jacob Anyaneji, Yeshnee Naidoo, Houriiyah Tegally, Emmanuel James San, Eduan Wilkinson, Richard J. Lessells, Tulio de Oliveira   +12 more
doaj   +1 more source

Sequencing technologies and genome sequencing [PDF]

Journal of Applied Genetics, 2011
The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method.
Pareek, Chandra Shekhar, Smoczyński, Rafał, Tretyn, Andrzej   +2 more
openaire   +3 more sources

Chimeric Phi29 DNA polymerase with helix–hairpin–helix motifs shows enhanced salt tolerance and replication performance

Microbial Biotechnology, 2021
Summary Phi29 DNA polymerase (Phi29 Pol) has been successfully applied in DNA nanoball‐based sequencing, real‐time DNA sequencing from single polymerase molecules and nanopore sequencing employing the sequencing by synthesis (SBS) method.
Yaping Gao, Yun He, Liyi Chen, Xing Liu, Igor Ivanov, Xuerui Yang, Hui Tian   +6 more
doaj   +1 more source

The GENCODE exome: sequencing the complete human exome [PDF]

, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P, Turner, DJ, Harrow, J, Lehesjoki, AE, Eleanor Drury, Kokocinski, Felix, Drury, Eleanor, Palotie, A, Scott, Carol E, Hubbard, TJ, Palta, Priit, Scott, CE, Sarah Hunt, Lehesjoki, Anna-Elina, Tim J Hubbard, Harrow, Jen, Hunt, Sarah, Leproust, EM, Felix Kokocinski, Joyce, Christopher J, Joyce, CJ, Carol E Scott, Jen Harrow, Anna-Elina Lehesjoki, Maria S Calafato, Aarno Palotie, Calafato, MS, Priit Palta, Hunt, S, Kokocinski, F, Christopher J Joyce, Palotie, Aarno, Turner, Daniel J, Coffey, AJ, Coffey, Alison J, Alison J Coffey, Leproust, Emily M, Drury, E, Daniel J Turner, Hubbard, Tim, Calafato, Maria S, Emily M LeProust, Hubbard, Tim J; id_orcid   +42 more
core   +1 more source

High-Resolution Melting Analysis to Detect Antimicrobial Resistance Determinants in South African Neisseria gonorrhoeae Clinical Isolates and Specimens

International Journal of Microbiology, 2022
Background. Antimicrobial resistance is limiting treatment options for Neisseria gonorrhoeae infections. To aid or replace culture and the syndromic management approach, molecular assays are required for antimicrobial susceptibility testing to guide ...
Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana   +10 more
doaj   +1 more source

Bacterial epidemiology and biology--lessons from genome sequencing. [PDF]

, 2011
Next-generation sequencing has ushered in a new era of microbial genomics, enabling the detailed historical and geographical tracing of bacteria.
Wren, Brendan W, Parkhill, Julian, Julian Parkhill, Brendan W Wren   +3 more
core   +1 more source

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Case Reports in Genetics
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD.
Liora H. Feshbach, Morgan Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena A. Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton   +7 more
doaj   +1 more source