Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
[HTML][HTML] Next generation sequencing and the future of genetic diagnosis
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 heterogeneous …
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics, 2014 - nature.com
Whole-genome sequencing enables complete characterization of genetic variation, but
geographic clustering of rare alleles demands many diverse populations be studied. Here …
geographic clustering of rare alleles demands many diverse populations be studied. Here …
Comparison of predicted and actual consequences of missense mutations
LA Miosge, MA Field, Y Sontani… - Proceedings of the …, 2015 - National Acad Sciences
Each person's genome sequence has thousands of missense variants. Practical
interpretation of their functional significance must rely on computational inferences in the …
interpretation of their functional significance must rely on computational inferences in the …
The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial
JL Vassy, KD Christensen, EF Schonman… - Annals of internal …, 2017 - acpjournals.org
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent
disease but increase health care use without clinical value. Objective: To describe the effect …
disease but increase health care use without clinical value. Objective: To describe the effect …
[HTML][HTML] Predicting functional effects of synonymous variants: a systematic review and perspectives
Z Zeng, Y Bromberg - Frontiers in genetics, 2019 - frontiersin.org
Recent advances in high-throughput experimentation have put the exploration of genome
sequences at the forefront of precision medicine. In an effort to interpret the sequencing …
sequences at the forefront of precision medicine. In an effort to interpret the sequencing …
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
The evolutionary cost of gene loss is a central question in genetics and has been
investigated in model organisms and human cell lines 1, 2, 3. In humans, tolerance of the …
investigated in model organisms and human cell lines 1, 2, 3. In humans, tolerance of the …
[HTML][HTML] Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …
[HTML][HTML] ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
Background Curated databases of genetic variants assist clinicians and researchers in
interpreting genetic variation. Yet, these databases contain some misclassified variants. It is …
interpreting genetic variation. Yet, these databases contain some misclassified variants. It is …
[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …
present day, the field of human genetics has witnessed an unparalleled revolution that …