Next Generation Sequencing In Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics | SpringerLink

https://link.springer.com/book/10.1007/978-1-4614-9032-6

C. NEXT-GENERATION SEQUENCING TECHNOLOGY …

https://www.nature.com/articles/s41436-021-01139-4

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Next Generation Sequencing …

https://link.springer.com/book/10.1007/978-1-4614-9032-6

This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, …

Clinical application of next-generation sequencing to the …

https://pubmed.ncbi.nlm.nih.gov/30981321/

However, despite numerous studies that show the efficacy of next-generation sequencing in establishing molecular diagnoses, pathogenic mutations are generally identified in …

Next generation sequencing and the future of genetic …

https://pubmed.ncbi.nlm.nih.gov/25052068/

The introduction of next generation sequencing (NGS) has led to an exponential increase of elucidated genetic causes in both extremely rare diseases and common but …

ACMG clinical laboratory standards for next-generation …

https://pubmed.ncbi.nlm.nih.gov/23887774/

To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure …

Standards and guidelines for the interpretation of …

https://pubmed.ncbi.nlm.nih.gov/25741868/

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing …

Application of Next Generation Sequencing in Laboratory …

https://pubmed.ncbi.nlm.nih.gov/32829577/

The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …

Next- Generation Sequencing Is An Effective Method For …

https://pubmed.ncbi.nlm.nih.gov/34826540/

Aim: Monogenic diabetes (MD) represents 5-7% of antibody-negative diabetes cases and is a heterogeneous group of disorders. Methods: We used targeted next-generation …

Next-generation sequencing and its applications in …

https://pubmed.ncbi.nlm.nih.gov/21463242/

DNA sequencing is a powerful approach for decoding a number of human diseases, including cancers. The advent of next-generation sequencing (NGS) technologies has …

Next-generation sequencing in the clinic: promises and …

https://pubmed.ncbi.nlm.nih.gov/23174106/

The advent of next generation sequencing (NGS) technologies has revolutionized the field of genomics, enabling fast and cost-effective generation of …