Targeted Capture Enrichment Followed by NGS: Development and Validation of a Single Comprehensive NIPT for Chromosomal Aneuploidies, Microdeletion Syndromes and Monogenic Diseases

Molecular Cytogenetics - United Kingdom
doi 10.1186/s13039-019-0459-8
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Expanding Genotype/Phenotype of Neuromuscular Diseases by Comprehensive Target Capture/NGS

Neurology: Genetics
NeurologyGenetics
2015English

Validation of Simultaneous Diagnosis of Single Gene Disorder (SGD) and Next Generation Sequencing (NGS) - Based Comprehensive Chromosomal Aneuploidy Screening (CCS) From a Single Trophectoderm (TE) Biopsy

Fertility and Sterility
GynecologyReproductive MedicineObstetrics
2018English

Characterization of Complex Chromosomal Rearrangements by Targeted Capture and Next-Generation Sequencing

Genome Research
Genetics
2011English

Microdeletion Syndromes and Psychiatry: An Update

BJ Psych Advances
PsychiatryMental Health
2017English

Diagnosis for Choroideremia in a Large Chinese Pedigree by Next-Generation Sequencing (NGS) and Non-Invasive Prenatal Testing (NIPT)

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Buffering of Segmental and Chromosomal Aneuploidies in Drosophila Melanogaster

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2009English

Preimplantation Genetic Testing for Aneuploidy (PGT-A) Followed by PGT- For Monogenic/Single Gene Diseases (PGT-M) Is the Sequence of Choice in Preconception Genetic Testing With Non-Dominant Disorders

Fertility and Sterility
GynecologyReproductive MedicineObstetrics
2018English

New Chromosomal and Malformation Syndromes

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
1976English

Periventricular Heterotopia in Common Microdeletion Syndromes

Molecular Syndromology
Genetics
2010English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy