Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família
| العنوان: | Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família |
|---|---|
| المؤلفون: | David, Dezso |
| المساهمون: | Repositório Científico do Instituto Nacional de Saúde |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Genomic Disorders, Structural Chromosomal Rearrangements, Doenças Genéticas, Doenças Genómicas |
| الوصف: | Structural chromosomal rearrangements (SCRs) have long been recognized as a major source of human developmental anomalies, including, among others, congenital anomalies, and neurodevelopmental, intellectual and cognitive disabilities. Indeed, causal relationship between congenital anomalies and related SCRs are expected to occur in up to 40% of the affected subjects. Approaches used for detection of such SCRs evolved significantly from classical and molecular cytogenetic technologies, such as FISH and microarrays, to whole genome sequencing (WGS) with high physical and low sequence coverage, also known as large-insert WGS. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| الإتاحة: | http://hdl.handle.net/10400.18/6373Test |
| حقوق: | embargoed access |
| رقم الانضمام: | rcaap.com.rinsa.repositorio.insa.pt.10400.18.6373 |
| قاعدة البيانات: | RCAAP |
| الوصف غير متاح. |