Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
[HTML][HTML] New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
MutationTaster2021
R Steinhaus, S Proft, M Schuelke… - Nucleic Acids …, 2021 - academic.oup.com
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The
new version uses a different prediction model and attains higher accuracy than its …
new version uses a different prediction model and attains higher accuracy than its …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
[HTML][HTML] Resolution of disease phenotypes resulting from multilocus genomic variation
Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …
observed clinical phenotypes and underlying genotypes. Methods We conducted a …
[HTML][HTML] Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
DR Murdock, H Dai, LC Burrage… - The Journal of …, 2021 - Am Soc Clin Investig
BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …
[HTML][HTML] Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …
as a primary testing modality in genomic medicine. These technologies have reduced the …
[HTML][HTML] Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel… - Genome medicine, 2017 - Springer
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …
data exchange between clinical and scientific communities are critical to optimize molecular …