Results 11 to 20 of about 12,735 (119)
Exome Sequencing in Children [PDF]
Deutsches Ärzteblatt international, 2019 In developed countries, global developmental disorders are encounter- ed in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investi- gation of the coding sequences of all genes of the affected individual (whole exome sequencing, WES) has developed ...
Elisa A, Mahler +16 more
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BioData Mining, 2011 In the late 18th century, Erasmus Darwin, Charles Darwin's grandfather, advocated evolutionary theory as a mean to "unravel the theory of disease". More than 200 years later, although Darwinian medicine is regaining some ground after having been muzzled during the second half of the 20th century, genomics has largely outcompeted evolution and has ...
Davnah Urbach, Jason H. Moore
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Global Medical Genetics, 2023 Hypomyelinating leukodystrophies are one of the white matter disorders caused by a lack of myelin deposition in the central nervous system (CNS). Here, we report the first case of hypomyelinating leukodystrophy in the Middle East and Saudi Arabia.
Lena Alotaibi, Amal Alqasmi
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Next generation sequencing in sudden cardiac death (pilot study)
Российский кардиологический журнал, 2020 Aim. To search for causal mutations in candidate genes responsible for the development of sudden cardiac death (SCD) in men who died under the age of 45.Material and methods.
V. N. Maksimov +9 more
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Ecology and Evolution, 2021 Understanding the forces that drive genotypic and phenotypic change in wild populations is a central goal of evolutionary biology. We examined exome variation in populations of deer mice from two of the California Channel Islands: Peromyscus maniculatus ...
John L. Orrock +3 more
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Whole-Exome Enrichment with the Illumina TruSeq Exome Enrichment Platform [PDF]
Cold Spring Harbor Protocols, 2015 Multiple platforms are available for whole-exome enrichment and sequencing (WES). This protocol is based on the Illumina TruSeq Exome Enrichment platform, which captures ∼62 Mb of the human exonic regions using 95-base DNA probes. In addition to covering the RefSeq and Ensembl coding sequences, the enriched sequences also include ∼28 Mb of RefSeq ...
Rui, Chen, Hogune, Im, Michael, Snyder
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Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021 Background Recurrent pregnancy loss affects 1% to 2% of couples attempting childbirth. A large fraction of all cases remains idiopathic, which warrants research into monogenic causes of this distressing disorder.
Laura Kasak +4 more
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The Rise and Rise of Exome Sequencing [PDF]
Public Health Genomics, 2016 Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discoveries of heritable germline mutations and de novo mutations for rare Mendelian disorders with hitherto unknown genetic aetiologies. Exome sequencing is an efficient tool to identify disease mutations without the need of a multi-generational pedigree ...
Ku, Chee-Seng +2 more
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The Turkish Journal of Pediatrics, 2019 We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype.
Derya Okur +7 more
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Genome Biology, 2011 Exome sequencing is rapidly expanding both as a technique and in its biological applications.
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