Results 11 to 20 of about 79,064 (227)

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia. [PDF]

Metabolites, 2022
Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in LDLR, APOB, PCSK9 and APOE genes. We sought to identify new candidate genes responsible for the ADH phenotype in patients without pathogenic variants in the known ADH-causing genes by focusing on a French family with affected and non-affected members ...
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M.   +30 more
europepmc   +7 more sources

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction. [PDF]

Front Neurol, 2023
ObjectiveTo utilize whole exome or genome sequencing and the scientific literature for identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine variant with paroxysmal nausea and vomiting.MethodsA retrospective chart review of 80 unrelated participants, ascertained by a quaternary care CVS specialist, was conducted.
Bar O, Ebenau L, Weiner K, Mintz M, Boles RG.   +4 more
europepmc   +4 more sources

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature [PDF]

European Journal of Medical Genetics, 2019
With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and ...
Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pélissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.-L., Goussot, V., Ghiringhelli, F., Boidot, Romain, Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.   +34 more
openaire   +3 more sources

Challenges in Medical Applications of Whole Exome/Genome Sequencing Discoveries [PDF]

Trends in Cardiovascular Medicine, 2012
Despite the well-documented influence of genetics on susceptibility to cardiovascular diseases, delineation of the full spectrum of the risk alleles had to await the development of modern next-generation sequencing technologies. The techniques provide unbiased approaches for identification of the DNA sequence variants (DSVs) in the entire genome (whole
openaire   +2 more sources

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

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

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

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

BMC Genomics, 2018
Background Understanding the underlying genetic structure of human populations is of fundamental interest to both biological and social sciences. Advances in high-throughput genotyping technology have markedly improved our understanding of global ...
Zoltán Maróti, Zsolt Boldogkői, Dóra Tombácz, Michael Snyder, Tibor Kalmár   +4 more
doaj   +1 more source