[HTML][HTML] The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
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] Evolution of the germline mutation rate across vertebrates
LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023 - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …
parameter itself. However, little is known about what determines its evolution, as most …
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 …
[HTML][HTML] APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …
[HTML][HTML] Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …
combination of rare de novo and inherited variants as well as common variants in at least …
Overlooked roles of DNA damage and maternal age in generating human germline mutations
The textbook view that most germline mutations in mammals arise from replication errors is
indirectly supported by the fact that there are both more mutations and more cell divisions in …
indirectly supported by the fact that there are both more mutations and more cell divisions in …
[HTML][HTML] Preimplantation genetic testing for chromosomal abnormalities: aneuploidy, mosaicism, and structural rearrangements
M Viotti - Genes, 2020 - mdpi.com
There is a high incidence of chromosomal abnormalities in early human embryos, whether
they are generated by natural conception or by assisted reproductive technologies (ART) …
they are generated by natural conception or by assisted reproductive technologies (ART) …
Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy
Background: Whole genome sequencing (WGS) is a comprehensive genetic testing
approach that reports most types of nucleotide variants. Objectives: This study sought to …
approach that reports most types of nucleotide variants. Objectives: This study sought to …
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …
by age of symptom onset less than 25 years and a variable presentation. Objective To …