Results 11 to 20 of about 125,953 (296)
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
openalex +6 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.
Emily M LeProust +15 more
openaire +4 more sources
Exome sequencing: a transformative technology [PDF]
The Lancet Neurology, 2011 Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
Andrew Singleton
openalex +4 more sources
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 +3 more sources
Brain Sciences, 2022 Migraine, as the seventh most disabling neurological disease with 26.9% prevalence in Saudi females, lacks studies on identifying associated genes and pathways with migraines in the Arab population.
Johra Khan +11 more
doaj +1 more source
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
doaj +1 more source
Genetics of pediatric hearing loss: A functional perspective
Laryngoscope Investigative Otolaryngology, 2020 Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed.
Harmon Khela, Margaret A. Kenna
doaj +1 more source
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 ...
Michael Snyder, Hogune Im, Rui Chen
openaire +3 more sources
Whole exome sequencing in the rat [PDF]
BMC Genomics, 2018 The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation. Here, we report development and testing of a probe set for whole exome sequencing (WES) to detect sequence variants in exons and UTRs of the rat genome. Using an in-silico approach,
Julie F. Foley +15 more
openaire +4 more sources
Genome Biology, 2011 Exome sequencing is rapidly expanding both as a technique and in its biological applications.
openaire +3 more sources