Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies. Meth...
Whole exome sequencing We used archival genomic DNA from the products of spontaneous miscarriage and extracted DNA from the peripheral blood of parents. All DNA was extracted using the conventional salting out method30. For fetuses or the products of miscarriage, DNA was extracted from chronic villi...
Whole exome sequencing variant analysis pipeline used to analyze the data published in the following manuscript- Gogate A, Kaur K, Goodspeed K, Evans P, Morris MA, Chahrour MH. The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. npj Genomic Medicine (2024) (Acc...
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180(3):568–84 e23. Article CAS PubMed PubMed Central Google Scholar Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, et al. Rare coding ...
In addition to a consideration of the conventions of other groups, revisions to the terminology used in recommendations would need to consider whether and how the preferences of end-users of the recommendation should be incorporated. Implications of the Era of Whole-Genome Sequencing For Evidence-...
Whole genome sequencing (WGS) is emerging as a first-tier diagnostic test for rare genetic diseases1,2. Compared to whole exome sequencing (WES) and other molecular diagnostic tests (e.g. sequencing panels, microarrays), WGS is more comprehensive for two reasons: (i) it allows detection of...
GCAT genesT A C G GCAT Article Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus Carmen González-Atienza 1,†, Eloísa Sánchez-Cazorla 1,†, Natalia Villoldo-Fernández 2, Almudena del Hierro 2,3, Ana Boto 2,3 , Marta Guerrero-Carret...