Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing
… In this study, we analyzed the exome of two pediatric patients by whole-exome sequencing.
… with syndactyly type Ic and type Id in Vietnam. These are among the most common forms of …
… with syndactyly type Ic and type Id in Vietnam. These are among the most common forms of …
Genome analysis using whole-exome sequencing of non-syndromic cleft lip and/or palate from Malagasy trios identifies variants associated with Cilium-related …
… a Chi-square analysis across the entire genome between two … whole-exome sequencing
may not be the most robust method to call copy-number variants, as whole-genome sequencing …
may not be the most robust method to call copy-number variants, as whole-genome sequencing …
Application of Whole Exome Sequencing in Mutational Analysis of Patients with Ohtahara Syndrome
TQM Nguyen, LTH Nguyen, KV Le Thi… - VNU Journal of …, 2022 - js.vnu.edu.vn
… Following multi-step bioinformatics analysis, trio-based Sanger sequencing confirmation, …
factors in Ohtahara syndrome in Vietnamese patients. This study also confirms that NGS in …
factors in Ohtahara syndrome in Vietnamese patients. This study also confirms that NGS in …
Genetic landscape of autism spectrum disorder in Vietnamese children
… conducted whole exome sequencing (WES) using a trio-based approach to investigate the
genetic pattern of Vietnamese … In this study, we performed whole exome sequencing of 100 …
genetic pattern of Vietnamese … In this study, we performed whole exome sequencing of 100 …
[PDF][PDF] Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium …
Z Manojlovic, A Auslander, Y Jin, RJ Schmidt, Y Xu… - 2023 - mawidna.com
… 6], we performed a Chi-square analysis across the entire genome between two cohorts (…
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet. Med. …
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet. Med. …
Family-based genome-wide association study of leprosy in Vietnam
C Gzara, M Dallmann-Sauer, M Orlova… - PLoS …, 2020 - journals.plos.org
… We conducted the first family-based genome-wide association study of leprosy in 622 affected
offspring from Vietnam, followed by replication in an independent sample of 1181 leprosy …
offspring from Vietnam, followed by replication in an independent sample of 1181 leprosy …
De novo Variants of Dominant Monogenic Disorders in Vietnam Detected by a Noninvasive Prenatal Test: A Case Series
… , such as only singleton pregnancies being eligible and only blood samples with a fetal
fraction over 4% being analyzed. The trio analysis comparing parental genomic DNA and cffDNA …
fraction over 4% being analyzed. The trio analysis comparing parental genomic DNA and cffDNA …
Novel findings from family-based exome sequencing for children with biliary atresia
… study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing
… genetic aspect obtained from an exome trio-based study of a Vietnamese BA cohort. The …
… genetic aspect obtained from an exome trio-based study of a Vietnamese BA cohort. The …
Developing and Validating Noninvasive Prenatal Testing for de novo Autosomal Dominant Monogenic Diseases in Vietnam
… The trio analysis, which involved comparing parental genomic DNA and cffDNA, assisted
in identifying maternal germline and paternally inherited variants, and ensuring the de novo …
in identifying maternal germline and paternally inherited variants, and ensuring the de novo …
[图书][B] Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
HTP Bui - 2021 - search.proquest.com
… Whole exome and genome sequencing help to investigate … patients, especially trio based
exome sequencing is a powerful … recently the whole exome and whole genome sequencing, …
exome sequencing is a powerful … recently the whole exome and whole genome sequencing, …