A Look Back at 20 Years of Human Genomics
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Citation: Human Genomics 2024 18:1
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COVID-19 2022 update: transition of the pandemic to the endemic phase
COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics an...
Citation: Human Genomics 2022 16:19 -
Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data
The severity of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies have reported that males and some ethnic groups a...
Citation: Human Genomics 2021 15:10 -
Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity
The emergence of the novel coronavirus in Wuhan, Hubei Province, China, in December 2019 marked the synchronization of the world to a peculiar clock that is counting infected cases and deaths instead of hours ...
Citation: Human Genomics 2020 14:40 -
The X chromosome and sex-specific effects in infectious disease susceptibility
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This ...
Citation: Human Genomics 2019 13:2 -
Integrating rare genetic variants into pharmacogenetic drug response predictions
Variability in genes implicated in drug pharmacokinetics or drug response can modulate treatment efficacy or predispose to adverse drug reactions. Besides common genetic polymorphisms, recent sequencing projec...
Citation: Human Genomics 2018 12:26 -
The NF1 somatic mutational landscape in sporadic human cancers
Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in...
Citation: Human Genomics 2017 11:13 -
Organization, evolution and functions of the human and mouse Ly6/uPAR family genes
Members of the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) superfamily of proteins are cysteine-rich proteins characterized by a distinct disulfide bridge pattern that creat...
Citation: Human Genomics 2016 10:10 -
Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities
This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including ra...
Citation: Human Genomics 2015 9:1 -
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant ...
Citation: Human Genomics 2014 8:11 -
Update on the Kelch-like (KLHL) gene family
The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The ...
Citation: Human Genomics 2013 7:13 -
The human protein disulfide isomerase gene family
Enzyme-mediated disulfide bond formation is a highly conserved process affecting over one-third of all eukaryotic proteins. The enzymes primarily responsible for facilitating thiol-disulfide exchange are membe...
Citation: Human Genomics 2012 6:6 -
The human fatty acid-binding protein family: Evolutionary divergences and functions
Fatty acid-binding proteins (FABPs) are members of the intracellular lipid-binding protein (iLBP) family and are involved in reversibly binding intracellular hydrophobic ligands and trafficking them throughout...
Citation: Human Genomics 2011 5:170 -
Evolutionary divergence and functions of the human interleukin (IL) gene family
Cytokines play a very important role in nearly all aspects of inflammation and immunity. The term 'interleukin' (IL) has been used to describe a group of cytokines with complex immunomodulatory functions -- in...
Citation: Human Genomics 2010 5:30 -
The Cytochrome P450 Homepage
The Cytochrome P450 Homepage is a universal resource for nomenclature and sequence information on cytochrome P450 (CYP) genes. The site has been in continuous operation since February 1995. Currently, naming info...
Citation: Human Genomics 2009 4:59 -
Human ATP-binding cassette (ABC) transporter family
There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of A...
Citation: Human Genomics 2009 3:281 -
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family
The NAD(P)H:quinone acceptor oxidoreductase (NQO) gene family belongs to the flavoprotein clan and, in the human genome, consists of two genes (NQO1 and NQO2). These two genes encode cytosolic flavoenzymes that c...
Citation: Human Genomics 2006 2:329 -
Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family
The aldehyde dehydrogenase (ALDH) gene superfamily encodes enzymes that are critical for certain life processes and detoxification via the NAD(P)+-dependent oxidation of numerous endogenous and exogenous aldehyde...
Citation: Human Genomics 2005 2:138 -
Analysis of the glutathione S-transferase (GST) gene family
The glutathione S-transferase (GST) gene family encodes genes that are critical for certain life processes, as well as for detoxication and toxification mechanisms, via conjugation of reduced glutathione (GSH) wi...
Citation: Human Genomics 2004 1:460 -
Gametic phase estimation over large genomic regions using an adaptive window approach
The authors present ELB, an easy to programme and computationally fast algorithm for inferring gametic phase in population samples of multilocus genotypes. Phase updates are made on the basis of a window of ne...
Citation: Human Genomics 2003 1:7