A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Best practices for the interpretation and reporting of clinical whole genome sequencing
CA Austin-Tse, V Jobanputra, DL Perry, D Bick… - NPJ genomic …, 2022 - nature.com
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …
with rare genetic disorders. However, standards addressing the definition and deployment …
Optical genome mapping enables constitutional chromosomal aberration detection
T Mantere, K Neveling, C Pebrel-Richard… - The American Journal of …, 2021 - cell.com
Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …
[HTML][HTML] Benchmarking of Nanopore R10. 4 and R9. 4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing
Third-generation sequencing can be used in human cancer genomics and epigenomic
research. Oxford Nanopore Technologies (ONT) recently released R10. 4 flow cell, which …
research. Oxford Nanopore Technologies (ONT) recently released R10. 4 flow cell, which …
Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
CR Marshall, S Chowdhury, RJ Taft, MS Lebo… - NPJ Genomic …, 2020 - nature.com
Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic
test for patients with rare genetic disorders; however, standards addressing the definition …
test for patients with rare genetic disorders; however, standards addressing the definition …
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
AM Bertoli-Avella, C Beetz, N Ameziane… - European Journal of …, 2021 - nature.com
Despite clear technical superiority of genome sequencing (GS) over other diagnostic
methods such as exome sequencing (ES), few studies are available regarding the …
methods such as exome sequencing (ES), few studies are available regarding the …
Rapid whole genome sequencing has clinical utility in children in the PICU
Objectives: Genetic disorders are a leading contributor to mortality in the neonatal ICU and
PICU in the United States. Although individually rare, there are over 6,200 single-gene …
PICU in the United States. Although individually rare, there are over 6,200 single-gene …
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation …
Background Since different types of genetic variants, from single nucleotide variants (SNVs)
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
Genomic diagnosis for pediatric disorders: revolution and evolution
Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …