Results 11 to 20 of about 5,928,974 (349)
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
EBioMedicine, 2020 Background: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations
Jing Tan +8 more
doaj +2 more sources
Nature Communications, 2016 Current databases of V genes for antibody repertoire have limitations. Here Corcoran et al. develop a computational approach named IgDiscover that can identify germline V gene sequences from expressed antibody repertoires to high specificity and ...
Martin M. Corcoran +7 more
doaj +2 more sources
Human Genomics, 2010 National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and
van Baal Sjozef +8 more
doaj +2 more sources
GAPeDNA: Assessing and mapping global species gaps in genetic databases for eDNA metabarcoding
Diversity and Distributions: A journal of biological invasions and biodiversity, 2021 Environmental DNA metabarcoding has recently emerged as a non‐invasive tool for aquatic biodiversity inventories, frequently surpassing traditional methods for detecting a wide range of taxa in most habitats.
V. Marques +6 more
semanticscholar +1 more source
Journal of Antimicrobial Chemotherapy, 2020 Background Antimicrobial resistance (AMR) is a rising health threat with 10 million annual casualties estimated by 2050. Appropriate treatment of infectious diseases with the right antibiotics reduces the spread of antibiotic resistance.
Norhan Mahfouz +4 more
semanticscholar +1 more source
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
JAMA Network Open, 2023 Key Points Question How are variants of uncertain significance (VUSs) distributed across genetic disorders and what evidence contributes to their resolution?
Elaine Chen +14 more
semanticscholar +1 more source
bioRxiv, 2021 The analysis of bacterial mobile genetic elements (MGEs) in genomic data is a critical step toward profiling the root causes of antibiotic resistance, phenotypic or metabolic diversity, and the evolution of bacterial genera.
Connor L. Brown +9 more
semanticscholar +1 more source
Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]
Клиническая практика, 2021 Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov +8 more
doaj +1 more source
Data mining of DNA sequences submitted by Peruvian institutions to public genetic databases
Revista Peruana de Biología, 2021 Genetic diversity is an important component of biodiversity, and it is crucial for current efforts to protect and sustainably manage several organisms and habitats.
Pedro Eduardo Romero +1 more
doaj +1 more source
Forensic Science International, 2019 In the last year direct-to-consumer (DTC) genetic genealogy databases have been used to identify suspects and missing persons in over fifty cold cases, many of which have been unsolved for decades. Genealogists worked on these cases in collaboration with
D. Kennett
semanticscholar +1 more source