Results 11 to 20 of about 75,829 (126)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Human Genomics, 2023
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single ...
Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium   +11 more
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Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He, Mei Meng, Xianchao Zhou, Rui Gao, Hui Wang   +4 more
doaj   +1 more source

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]

PLoS ONE, 2012
The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang, Alexander Gusev, Judy Cho, Itsik Pe'er   +3 more
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Semantic prioritization of novel causative genomic variants.

PLoS Computational Biology, 2017
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.
Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf   +9 more
doaj   +1 more source

Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Scientific Data, 2021
Measurement(s) Somatic Mutation Analysis Technology Type(s) whole genome sequencing • Whole Exome Sequencing Factor Type(s) sequencing platform • sample prepration • library preparation • bioinformatics method Sample Characteristic - Organism Homo ...
Yongmei Zhao, Li Tai Fang, Tsai-wei Shen, Sulbha Choudhari, Keyur Talsania, Xiongfong Chen, Jyoti Shetty, Yuliya Kriga, Bao Tran, Bin Zhu, Zhong Chen, Wanqiu Chen, Charles Wang, Erich Jaeger, Daoud Meerzaman, Charles Lu, Kenneth Idler, Luyao Ren, Yuanting Zheng, Leming Shi, Virginie Petitjean, Marc Sultan, Tiffany Hung, Eric Peters, Jiri Drabek, Petr Vojta, Roberta Maestro, Daniela Gasparotto, Sulev Kõks, Ene Reimann, Andreas Scherer, Jessica Nordlund, Ulrika Liljedahl, Jonathan Foox, Christopher E. Mason, Chunlin Xiao, Huixiao Hong, Wenming Xiao   +37 more
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SEXCMD: Development and validation of sex marker sequences for whole-exome/genome and RNA sequencing

PLOS ONE, 2017
Over the last decade, a large number of nucleotide sequences have been generated by next-generation sequencing technologies and deposited to public databases. However, most of these datasets do not specify the sex of individuals sampled because researchers typically ignore or hide this information.
Seongmun Jeong, Jiwoong Kim, Won Park, Hongmin Jeon, Namshin Kim   +4 more
openaire   +4 more sources

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291–1329 CE) indicates the first known case of late-onset Pompe disease

Scientific Reports, 2021
Mummified remains of relevant historical figures are nowadays an important source of information to retrace data concerning their private life and health, especially when historical archives are not available.
Barbara Iadarola, Denise Lavezzari, Alessandra Modi, Chiara Degli Esposti, Cristina Beltrami, Marzia Rossato, Valentina Zaro, Ettore Napione, Leonardo Latella, Martina Lari, David Caramelli, Alessandro Salviati, Massimo Delledonne   +12 more
doaj   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma

Nature Communications, 2021
Chromothripsis is associated with unfavourable outcomes in multiple myeloma (MM), but its detection usually requires whole genome sequencing. Here the authors develop an approach to detect chromothripsis in MM based on copy-number signatures that also ...
Kylee H. Maclachlan, Even H. Rustad, Andriy Derkach, Binbin Zheng-Lin, Venkata Yellapantula, Benjamin Diamond, Malin Hultcrantz, Bachisio Ziccheddu, Eileen M. Boyle, Patrick Blaney, Niccolò Bolli, Yanming Zhang, Ahmet Dogan, Alexander M. Lesokhin, Gareth J. Morgan, Ola Landgren, Francesco Maura   +16 more
doaj   +1 more source

Plant Sequence Capture Optimised for Illumina Sequencing

Bio-Protocol, 2014
Plant Sequence Capture is used for targeted resequencing of whole exomes (all exons of a genome) of complex genomes e.g. barley and its relatives (Mascher et al., 2013).
Axel Himmelbach, Manuela Knauft , Nils Stein   +2 more
doaj   +1 more source