The term 'ancient DNA' (aDNA) is coming of age, with over 1,200 hits in the PubMed database, beginning in the early 1980s with the studies of 'molecular paleontology'. Rooted in cloning and limited sequencing of DNA from ancient remains during the pre-PCR era, the field has made incredible progress since the introduction of PCR and next-generation sequencing. Over the last decade, aDNA analysis ushered in a new era in genomics and became the method of choice for reconstructing the history of organisms, their biogeography, and migration routes, with applications in evolutionary biology, population genetics, archaeogenetics, paleo-epidemiology, and many other areas. This change was brought by development of new strategies for coping with the challenges in studying aDNA due to damage and fragmentation, scarce samples, significant historical gaps, and limited applicability of population genetics methods. In this review, we describe the state-of-the-art achievements in aDNA studies, with particular focus on human evolution and demographic history. We present the current experimental and theoretical procedures for handling and analysing highly degraded aDNA. We also review the challenges in the rapidly growing field of ancient epigenomics. Advancement of aDNA tools and methods signifies a new era in population genetics and evolutionary medicine research.
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http://dx.doi.org/10.1093/dnares/dsw029 | DOI Listing |
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Vestn Oftalmol
December 2024
Russian Medical Academy of Continuous Professional Education, Moscow, Russia.
Endocrine ophthalmopathy (EO; also called Graves' ophthalmopathy, thyroid eye disease) is a common extrathyroidal manifestation of Graves' disease, characterized by the presence of autoimmune inflammatory process in the orbital soft tissues. The prevalence of EO is approximately 10 cases per 10.000 population, higher in individuals over 50 years old.
View Article and Find Full Text PDFLipids Health Dis
December 2024
Department of Nephrology, The Fourth Affiliated Hospital, Guangxi Medical University, Liuzhou, Guangxi, 545005, People's Republic of China.
Background: Lipid metabolism is influenced by mutations in the EH domain binding protein 1 gene (EHBP1). This study investigated the link between the EHBP1 single-nucleotide polymorphisms (SNPs) and dyslipidemia risks in maintenance dialysis patients with end-stage renal disease in Chinese Han population.
Methods: A total of 539 patients were divided into dyslipidemia (379) and control (160) groups.
Lipids Health Dis
December 2024
Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.
Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.
Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.
BMC Infect Dis
December 2024
Department of Medical Laboratory Science, Faculty of Applied Health Sciences, Edo State University, Uzairue, Edo State, Nigeria.
Background: Hepatitis B virus (HBV) infection remains a major health challenge in Nigeria, with high prevalence rates among pregnant women. The prevalence of overt and occult hepatitis B infection (HBI and HBI) among pregnant women was investigated to understand the burden and associated risk factors in this population.
Methods: A cross-sectional study was conducted among 200 pregnant women.
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