Variant calling: considerations, practices, and developments
S Zverinova, V Guryev - Human mutation, 2022 - Wiley Online Library
The success of many clinical, association, or population genetics studies critically relies on
properly performed variant calling step. The variety of modern genomics protocols …
properly performed variant calling step. The variety of modern genomics protocols …
Digital Determinants of Health: Health data poverty amplifies existing health disparities—A scoping review
KE Paik, R Hicklen, F Kaggwa, CV Puyat… - PLOS Digital …, 2023 - journals.plos.org
Artificial intelligence (AI) and machine learning (ML) have an immense potential to transform
healthcare as already demonstrated in various medical specialties. This scoping review …
healthcare as already demonstrated in various medical specialties. This scoping review …
MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals
Despite the high number of individuals infected by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …
Qatar genome: Insights on genomics from the Middle East
Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …
the Middle Eastern population, home to over 400 million people, is underrepresented in the …
Sarcoglycanopathies: an update
M Vainzof, LS Souza, J Gurgel-Giannetti… - Neuromuscular Disorders, 2021 - Elsevier
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …
HLA-G genetic diversity and evolutive aspects in worldwide populations
HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents
substantial nucleotide variability in its regulatory regions. However, it encodes a limited …
substantial nucleotide variability in its regulatory regions. However, it encodes a limited …
[HTML][HTML] An immunogenetic view of COVID-19
Meeting the challenges brought by the COVID-19 pandemic requires an interdisciplinary
approach. In this context, integrating knowledge of immune function with an understanding …
approach. In this context, integrating knowledge of immune function with an understanding …
Immunogenetics of resistance to SARS-CoV-2 infection in discordant couples
Background Despite the high number of individuals infected by SARS-CoV-2 who develop
COVID-19 symptoms worldwide, many exposed individuals remain asymptomatic and/or …
COVID-19 symptoms worldwide, many exposed individuals remain asymptomatic and/or …
In silico approach to identify non-synonymous missense variants in human obesity-related genes: Comprehensive analyses in variants reported in Brazilian …
LOS Bratti, BF Nunes, DM Gorges, FB Filippin-Monteiro - Human Gene, 2023 - Elsevier
In recent years, the search for understanding the pathophysiology of obesity has been
intense, especially in understanding satiety signs in the hypothalamus and brain regions …
intense, especially in understanding satiety signs in the hypothalamus and brain regions …
Unraveling the genetic architecture of hepatoblastoma risk: birth defects and increased burden of germline damaging variants in gastrointestinal/renal cancer …
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is
related to a few rare syndromes, and the molecular bases remain elusive for most cases. We …
related to a few rare syndromes, and the molecular bases remain elusive for most cases. We …