Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
Author :
Publisher : Academic Press
Total Pages : 227
Release :
ISBN-10 : 9780124046849
ISBN-13 : 0124046843
Rating : 4/5 (843 Downloads)

Book Synopsis Benign and Pathological Chromosomal Imbalances by : Thomas Liehr

Download or read book Benign and Pathological Chromosomal Imbalances written by Thomas Liehr and published by Academic Press. This book was released on 2013-08-31 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. - Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development - Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate - Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques


Benign and Pathological Chromosomal Imbalances Related Books

Benign and Pathological Chromosomal Imbalances
Language: en
Pages: 227
Authors: Thomas Liehr
Categories: Science
Type: BOOK - Published: 2013-08-31 - Publisher: Academic Press

GET EBOOK

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cy
A Time for Metabolism and Hormones
Language: en
Pages: 141
Authors: Paolo Sassone-Corsi
Categories: Medical
Type: BOOK - Published: 2016-04-04 - Publisher: Springer

GET EBOOK

Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocr
Neurogenetics, Part II
Language: en
Pages: 480
Authors:
Categories: Medical
Type: BOOK - Published: 2018-01-29 - Publisher: Elsevier

GET EBOOK

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that
Textbook of Human Reproductive Genetics
Language: en
Pages: 217
Authors: Karen Sermon
Categories: Medical
Type: BOOK - Published: 2014-04-10 - Publisher: Cambridge University Press

GET EBOOK

This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
The AGT Cytogenetics Laboratory Manual
Language: en
Pages: 1216
Authors: Marilyn S. Arsham
Categories: Science
Type: BOOK - Published: 2017-04-24 - Publisher: John Wiley & Sons

GET EBOOK

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes