Results 21 to 30 of about 122,453 (313)

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

Using linkage analysis of large pedigrees to guide association analyses [PDF]

, 2011
To date, genome-wide association studies have yielded discoveries of common variants that partly explain familial aggregation of diseases and traits. Researchers are now turning their attention to less common variants because the price of sequencing has ...
Seung-Hoan Choi, Chunyu Liu, Josée Dupuis, Mark W Logue, Gyungah Jun   +4 more
core   +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

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +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

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna, AJ Coffey, Alison M Meynert, AM Sulonen, Andrew P Jackson, B Lehne, B Timmermann, DN Cooper, E Kalay, H Li, H Li, J Parla, JF Degner, JK Teer, K Fransen, KK Mantripragada, Louise S Bicknell, M Choi, MA Depristo, Martin S Taylor, Matthew E Hurles, MD Mailman, MJ Clark, MN Bainbridge, MW Hahn, R Leinonen, RA Harte, RE Thurman, SB Ng, SB Ng, SB Ng, SS Ajay, The International HapMap 3 Consortium, Y Li, Y Xu   +34 more
core   +2 more sources

Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

Studia Ecologiae et Bioethicae, 2014
In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes.
Andrzej Kochański
doaj   +1 more source

A Path to Implement Precision Child Health Cardiovascular Medicine. [PDF]

, 2017
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is
Brian Reemtsen, J. Paul Finn, Juan Alejos, Marlin Touma, Marlin Touma, Nancy Halnon, Stanley F. Nelson, Yibin Wang, Yibin Wang   +8 more
core   +2 more sources