[图书][B] Genomes 5

TA Brown - 2023 - taylorfrancis.com
Genomes 5 has been completely revised and updated. It is a thoroughly modern textbook
about genomes and how they are investigated. As with previous Genomes editions …

DNA in nanochannels: theory and applications

K Frykholm, V Müller, KK Sriram… - Quarterly Reviews of …, 2022 - cambridge.org
Nanofluidic structures have over the last two decades emerged as a powerful platform for
detailed analysis of DNA on the kilobase pair length scale. When DNA is confined to a …

Dam assisted fluorescent tagging of chromatin accessibility (dafca) for optical genome mapping in nanochannel arrays

G Nifker, A Grunwald, S Margalit, Z Tulpova… - ACS …, 2023 - ACS Publications
Proteins and enzymes in the cell nucleus require physical access to their DNA target sites in
order to perform genomic tasks such as gene activation and transcription. Hence, chromatin …

[HTML][HTML] Points to consider in the detection of germline structural variants using next-generation sequencing: a statement of the American College of Medical Genetics …

G Raca, C Astbury, A Behlmann, MJ De Castro… - Genetics in …, 2023 - Elsevier
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Design of optimal labeling patterns for optical genome mapping via information theory

Y Nogin, D Bar-Lev, D Hanania, T Detinis Zur… - …, 2023 - academic.oup.com
Motivation Optical genome mapping (OGM) is a technique that extracts partial genomic
information from optically imaged and linearized DNA fragments containing fluorescently …

Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics

P Dai, X Zhu, Y Pei, P Chen, J Li, Z Gao… - … Genetics & Genomic …, 2022 - Wiley Online Library
Background Balanced reciprocal translocation is one of the most common chromosomal
abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having …

The assembled genome of the stroke-prone spontaneously hypertensive rat

TS Kalbfleisch, NA Hussien AbouEl Ela, K Li… - …, 2023 - Am Heart Assoc
Background: We report the creation and evaluation of a de novo assembly of the genome of
the spontaneously hypertensive rat, the most widely used model of human cardiovascular …

DeepOM: single-molecule optical genome mapping via deep learning

Y Nogin, T Detinis Zur, S Margalit, I Barzilai… - …, 2023 - academic.oup.com
Motivation Efficient tapping into genomic information from a single microscopic image of an
intact DNA molecule is an outstanding challenge and its solution will open new frontiers in …

Genomic structural variation: A complex but important driver of human evolution

DC Soto, JM Uribe‐Salazar, CJ Shew… - American Journal of …, 2023 - Wiley Online Library
Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can
have significant genomic and functional impacts but are technically difficult to identify and …

Attenuated relationships between indexes of volume overload and atrial natriuretic peptide in uncontrolled, sustained volume-dependent primary hypertension

SM Yusuf, GR Norton, VR Peterson, N Malan… - …, 2023 - Am Heart Assoc
Background: Whether systolic blood pressure (SBP) control in sustained volume-dependent
primary hypertension is associated with blunted ANP (atrial natriuretic peptide) relationships …