The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2107
Abstract: While representing a significant improvement, the introduction of next‐generation sequencing in genetic diagnosis also prompted new challenges. Despite widely recognized consensus guidelines for the interpretation of sequence variants, many variants remain unclassified or are discordantly… read more here.
Keywords: sequence variants; interpretation sequence; segregation analysis;
Segregation Analysis Using the Unified Model.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7274-6_12
Abstract: Segregation analysis is a basic tool in human genetics. It is a statistical method to determine if a trait, continuous or binary, has a transmission pattern in pedigrees that is consistent with Mendelian segregation. Major… read more here.
Keywords: model segregation; unified model; analysis; segregation analysis ... See more keywords
[Segregation Analysis in Inherited Eye Disorders: An Academic Add-on or An Essential Effort?]
Sign Up to like & getrecommendations! Published in 2017 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/s-0043-101818
Abstract: The knowledge of the genetic basis of many eye diseases is constantly increasing. Besides retinal degeneration, developmental defects of the anterior segment, cataracts, and the development of the basic structure are often associated with genetic… read more here.
Keywords: eye disorders; segregation analysis; inherited eye; analysis inherited ... See more keywords
An efficient RNA-seq-based segregation analysis identifies the sex chromosomes of Cannabis sativa.
Sign Up to like & getrecommendations! Published in 2020 at "Genome research"
DOI: 10.1101/gr.251207.119
Abstract: Cannabis sativa-derived tetrahydrocannabinol (THC) production is increasing very fast worldwide. C. sativa is a dioecious plant with XY Chromosomes, and only females (XX) are useful for THC production. Identifying the sex chromosome sequence would improve… read more here.
Keywords: plant; sex chromosomes; cannabis sativa; sex ... See more keywords
Complex Segregation Analysis Provides Evidence for Autosomal Dominant Transmission in the Chinese Han Families with Ankylosing Spondylitis
Sign Up to like & getrecommendations! Published in 2017 at "BioMed Research International"
DOI: 10.1155/2017/4515701
Abstract: Introduction Familial aggregation of ankylosing spondylitis (AS) has been frequently noticed. However, the mode of inheritance in AS remains poorly understood. Our aim was to determine the mode of inheritance best fitting the observed transmission… read more here.
Keywords: mode; ankylosing spondylitis; inheritance; model ... See more keywords
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043664
Abstract: Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks,… read more here.
Keywords: analysis reciprocal; sperm meiotic; segregation analysis; meiotic segregation ... See more keywords