Medial Arterial Calcification: JACC State-of-the-Art Review
Medial arterial calcification (MAC) is a chronic systemic vascular disorder distinct from
atherosclerosis that is frequently but not always associated with diabetes mellitus, chronic …
atherosclerosis that is frequently but not always associated with diabetes mellitus, chronic …
Integrative omics for health and disease
KJ Karczewski, MP Snyder - Nature Reviews Genetics, 2018 - nature.com
Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
Ubiquitin ligases: guardians of mammalian development
DA Cruz Walma, Z Chen, AN Bullock… - … Reviews Molecular Cell …, 2022 - nature.com
Mammalian development demands precision. Millions of molecules must be properly
located in temporal order, and their function regulated, to orchestrate important steps in cell …
located in temporal order, and their function regulated, to orchestrate important steps in cell …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …
the genome that directly encode proteins. The important role of variants in non-coding …
[HTML][HTML] Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen… - Science translational …, 2017 - science.org
Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …