Cargando…

Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

BACKGROUND: In order to mitigate the risk of allele dropout (ADO) and ensure the accuracy of preimplantation genetic testing for monogenic disease (PGT-M), it is necessary to construct parental haplotypes. Typically, haplotype resolution is obtained by genotyping multiple polymorphic markers in both...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Qing, Mao, Yan, Li, Shaoying, Du, Hongzi, He, Wenzhi, He, Jianchun, Kong, Lingyin, Zhang, Jun, Liang, Bo, Liu, Jianqiao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Technical Advance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441613/ https://www.ncbi.nlm.nih.gov/pubmed/32819358 http://dx.doi.org/10.1186/s12920-020-00766-1

Ejemplares similares

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
por: Zhang, Shuo, et al.
Publicado: (2019)

Minimally invasive versus conventional fixation of tracer in robot-assisted pedicle screw insertion surgery: a randomized control trial
por: Yongqi, Li, et al.
Publicado: (2020)

The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers
por: Zhang, Shuo, et al.
Publicado: (2017)

15th Results and Review Workshop of the HLRS
por: Nagel, Wolfgang, et al.
Publicado: (2013)

CMCpy: Genetic Code-Message Coevolution Models in Python
por: Becich, Peter J., et al.
Publicado: (2013)

Discovering weaker genetic associations guided by known associations
por: Wang, Haohan, et al.
Publicado: (2020)

A new efficient method to detect genetic interactions for lung cancer GWAS
por: Luyapan, Jennifer, et al.
Publicado: (2020)

Quantifying substantial carcinogenesis of genetic and environmental factors from measurement error in the number of stem cell divisions
por: Liu, Xinhui, et al.
Publicado: (2022)

A sequence-anchored genetic linkage map for the moss, Physcomitrella patens
por: Kamisugi, Yasuko, et al.
Publicado: (2008)

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions
por: Zhang, Shuo, et al.
Publicado: (2019)

Forward-in-Time, Spatially Explicit Modeling Software to Simulate Genetic Lineages Under Selection
por: Currat, Mathias, et al.
Publicado: (2016)

Modified entropy-based procedure detects gene-gene-interactions in unconventional genetic models
por: Malten, Jörg, et al.
Publicado: (2020)

Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants
por: Lim, Youngshin, et al.
Publicado: (2022)

A hybrid solution for extracting structured medical information from unstructured data in medical records via a double-reading/entry system
por: Luo, Ligang, et al.
Publicado: (2016)

Reporter‐based forward genetic screen to identify bundle sheath anatomy mutants in A. thaliana
por: Döring, Florian, et al.
Publicado: (2019)

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis
por: Takano, Elena A, et al.
Publicado: (2008)

Intracanal placement of calcium hydroxide: a comparison of specially designed paste carrier technique with other techniques
por: Tan, Joseph Meng Ern, et al.
Publicado: (2013)

De novo chromosome level assembly of a plant genome from long read sequence data
por: Sharma, Priyanka, et al.
Publicado: (2021)

High‐throughput 3D modelling to dissect the genetic control of leaf elongation in barley (Hordeum vulgare)
por: Ward, Ben, et al.
Publicado: (2019)

Identification of Avramr1 from Phytophthora infestans using long read and cDNA pathogen‐enrichment sequencing (PenSeq)
por: Lin, Xiao, et al.
Publicado: (2020)

Characterization of repeat arrays in ultra‐long nanopore reads reveals frequent origin of satellite DNA from retrotransposon‐derived tandem repeats
por: Vondrak, Tihana, et al.
Publicado: (2019)

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project
por: Larson, Jessica L., et al.
Publicado: (2015)

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation
por: Peng, Cuiting, et al.
Publicado: (2023)

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics
por: Prochazkova, Kamila, et al.
Publicado: (2019)

Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
por: López, Sara Ocaña, et al.
Publicado: (2007)

PCR amplification of a triple-repeat genetic target directly from whole blood in 15 minutes as a proof-of-principle PCR study for direct sample analysis for a clinically relevant target
por: Connelly, Christopher M, et al.
Publicado: (2014)

Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment
por: Rice, Mabel L., et al.
Publicado: (2009)

The innovation and practice of “Hand as Foot teaching method” in the teaching of motion system injury course
por: He, Bin, et al.
Publicado: (2021)

A comparative study on the efficacy of a retrograde perfusion technique and an antegrade perfusion technique for donor kidney recovery in transplantation in pigs
por: Han, Xiuwu, et al.
Publicado: (2017)

F8 gene inversion and duplication cause no obvious hemophilia A phenotype
por: Li, Shaoying, et al.
Publicado: (2023)

Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing
por: Xia, Qiuping, et al.
Publicado: (2023)

Preimplantation genetics
Publicado: (1991)

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands
por: Jeong, Joo Hee, et al.
Publicado: (2023)

A new lever reduction technique for the surgical treatment of elderly patients with lumbar degenerative Spondylolisthesis
por: Kong, Chao, et al.
Publicado: (2020)

Decoding the PITX2-controlled genetic network in atrial fibrillation
por: Steimle, Jeffrey D., et al.
Publicado: (2022)

The genetic background shapes the susceptibility to mitochondrial dysfunction and NASH progression
por: Benegiamo, Giorgia, et al.
Publicado: (2023)

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
por: Luo, Haining, et al.
Publicado: (2019)

A modified technique of single-incision laparoscopic hepaticojejunostomy for children with choledochal cysts
por: Xu, Di, et al.
Publicado: (2019)

7th Results and Review Workshop of the HLRS on High Performance Computing in Science and Engineering
por: Jäger, Willi, et al.
Publicado: (2007)

Outcome of bone defect reconstruction with clavicle bone cement prosthesis after tumor resection: a case series study
por: Lin, Bin, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_6a7rjpba7kt14jjpuqc27obcct