Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls
L Basel-Salmon, D Brabbing-Goldstein - Best Practice & Research Clinical …, 2024 - Elsevier
Genome-wide sequencing, which includes exome sequencing and genome sequencing,
has revolutionized the diagnostics of genetic disorders in both postnatal and prenatal …
has revolutionized the diagnostics of genetic disorders in both postnatal and prenatal …
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
IA Showpnil, M E. Hernandez Gonzalez… - npj Genomic …, 2024 - nature.com
Long-read sequencing can often overcome the deficiencies in routine microarray or short-
read technologies in detecting complex genomic rearrangements. Here we used Pacific …
read technologies in detecting complex genomic rearrangements. Here we used Pacific …
Genetic analysis of chorionic villus tissues in early missed abortions
H Xue, Q Guo, A Yu, M Lin, X Chen, L Xu - Scientific Reports, 2023 - nature.com
Chromosomal abnormalities are the most common etiology of early spontaneous
miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by …
miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by …
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families
LN Antunes, AMM Dias, BC Schiavo… - Frontiers in …, 2024 - frontiersin.org
Introduction Hearing loss is a frequent sensory impairment type in humans, with about 50%
of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss …
of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss …
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐and middle‐income countries
PC Mazzonetto, D Villela, ACV Krepischi… - American Journal of …, 2024 - Wiley Online Library
Low‐pass whole genome sequencing (LP‐WGS) has been applied as alternative method to
detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal …
detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal …
[HTML][HTML] Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11. 2 Microduplication and Microdeletion Syndromes with …
DKR Vieira, IBF Lima, C Rosenberg, CR Fonseca… - Genes, 2024 - mdpi.com
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of
live births. While most carriers are phenotypically normal, they are at risk of generating …
live births. While most carriers are phenotypically normal, they are at risk of generating …
[PDF][PDF] MAESTRÍA EN CIENCIAS BIOQUÍMICAS
IDEAEN EL NÚMERO - 2024 - ru.dgb.unam.mx
UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO MAESTRÍA EN CIENCIAS
BIOQUÍMICAS IDENTIFICACIÓN DE ALTERACIONES EN EL NÚMERO DE CO Page 1 …
BIOQUÍMICAS IDENTIFICACIÓN DE ALTERACIONES EN EL NÚMERO DE CO Page 1 …
[HTML][HTML] Policy List Edit Policy {{navigationConstituentPage. title||{'medicalpolicyhb':'Healthy Blue Medical Policies','medicalpolicyih':'InStil Health Medical Policies'} …
LPWG Sequencing-CAM - member.myhealthtoolkittn.com
Chromosomal microarray (CMA) testing refers to the use of comparative genomic
hybridization (CGH) arrays to detect small (10 to 100kb) duplications or deletions of …
hybridization (CGH) arrays to detect small (10 to 100kb) duplications or deletions of …