Results 11 to 20 of about 237,110 (353)
Mutation Clusters from Cancer Exome [PDF]
SSRN Electronic Journal, 2017 We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types.
Kakushadze, Zura, Yu, Willie
core +4 more sources
The GENCODE exome: sequencing the complete human exome [PDF]
European Journal of Human Genetics, 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. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database.
Coffey, Alison J +13 more
openaire +3 more sources
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
doaj +1 more source
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
doaj +1 more source
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
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 +6 more
core +1 more source
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
openaire +2 more sources
p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder [PDF]
Journal of Movement Disorders, 2018 Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a ...
Silke Appel-Cresswell +4 more
doaj +1 more source
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 ...
Urbach Davnah, Moore Jason H
openaire +3 more sources
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
doaj +1 more source