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The NIH Comparative Genomics Resource: addressing the promises and challenges of comparative genomics on human health.
Publication Type: Academic Journal
Source(s): BMC genomics [BMC Genomics] 2023 Sep 27; Vol. 24 (1), pp. 575. Date of Electronic Publication: 2023 Sep 27.
Abstract: Comparative genomics is the comparison of genetic information within and across organisms to understand the evolution, structure, and function of genes, proteins, and non-coding regions (Sivashankari and Shanmughavel, Bioinformation 1:376-8, 2007). Adv...
The complete sequence of a human Y chromosome.
Publication Type: Academic Journal
Source(s): Nature [Nature] 2023 Sep; Vol. 621 (7978), pp. 344-354. Date of Electronic Publication: 2023 Aug 23.
Abstract: The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications 1-3 . As a result, more than half of the Y chromosome is mi...
Parents' Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine.
Publication Type: Academic Journal
Source(s): Clinical therapeutics [Clin Ther] 2023 Aug; Vol. 45 (8), pp. 719-728. Date of Electronic Publication: 2023 Aug 11.
Abstract: Purpose: With advances in genome sequencing technologies, large-scale genome-wide sequencing has advanced our understanding of disease risk and etiology and contributes to the rapidly expanding genomic health services in pediatric settings. Because it ...
Genomic structural variation: A complex but important driver of human evolution.
Publication Type: Academic Journal
Source(s): American journal of biological anthropology [Am J Biol Anthropol] 2023 Aug; Vol. 181 Suppl 76, pp. 118-144. Date of Electronic Publication: 2023 Feb 16.
Abstract: Structural variants (SVs)-including duplications, deletions, and inversions of DNA-can have significant genomic and functional impacts but are technically difficult to identify and assay compared with single-nucleotide variants. With the aid of new gen...
DNA methylation reprogramming of genomic imprints in the mammalian germline: A TET-centric view.
Publication Type: Academic Journal
Source(s): Andrology [Andrology] 2023 Jul; Vol. 11 (5), pp. 884-890. Date of Electronic Publication: 2022 Oct 02.
Abstract: The mammalian genome undergoes extensive epigenetic reprogramming twice during development, once during gestation when primordial germ cells (PGCs) are specified from somatic cells and a second time after fertilization in the preimplantation embryo. PG...
Characterization of large-scale genomic differences in the first complete human genome.
Publication Type: Academic Journal
Source(s): Genome biology [Genome Biol] 2023 Jul 04; Vol. 24 (1), pp. 157. Date of Electronic Publication: 2023 Jul 04.
Abstract: Background: The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13) release is a milestone in human genomics. The T2T-CHM13 genome assembly extends our understanding of telomeres, centromeres, segmental duplication, and other complex reg...
Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design.
Publication Type: Academic Journal
Source(s): Genes [Genes (Basel)] 2023 Mar 24; Vol. 14 (4). Date of Electronic Publication: 2023 Mar 24.
Abstract: Ongoing health challenges, such as the increased global burden of chronic disease, are increasingly answered by calls for personalized approaches to healthcare. Genomic medicine, a vital component of these personalization strategies, is applied in risk...
DADFN: dynamic adaptive deep fusion network based on imaging genomics for prediction recurrence of lung cancer.
Publication Type: Academic Journal
Source(s): Physics in medicine and biology [Phys Med Biol] 2023 Mar 23; Vol. 68 (7). Date of Electronic Publication: 2023 Mar 23.
Abstract: Objective . Recently, imaging genomics has increasingly shown great potential for predicting postoperative recurrence of lung cancer patients. However, prediction methods based on imaging genomics have some disadvantages such as small sample size, high...
Genetic data protection as an indispensable element of genomic medicine development.
Publication Type: Academic Journal
Source(s): Polish archives of internal medicine [Pol Arch Intern Med] 2023 Feb 27; Vol. 133 (2). Date of Electronic Publication: 2023 Feb 10.
Abstract: The immense progress in molecular biology observed in the last decades has led to a fundamental change in our understanding of the etiology of human diseases. Whole genome analyses, both DNA sequencing and microarray comparative genomic hybridization, ...
Long-read sequencing identifies novel structural variations in colorectal cancer.
Publication Type: Academic Journal
Source(s): PLoS genetics [PLoS Genet] 2023 Feb 22; Vol. 19 (2), pp. e1010514. Date of Electronic Publication: 2023 Feb 22 (Print Publication: 2023).
Abstract: Structural variations (SVs) are a key type of cancer genomic alterations, contributing to oncogenesis and progression of many cancers, including colorectal cancer (CRC). However, SVs in CRC remain difficult to be reliably detected due to limited SV-det...