Benign and Pathological Chromosomal Imbalances

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Genetic Diagnostics, Patient Counselling, and Treatment Plan Development

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Genetic Diagnostics, Patient Counselling, and Treatment Plan Development

Given technology-driven FISH, aCGH approaches have yet to reach the much-touted promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics will remain relevant for technology translation, study design and therapeutic assessment for many years.

This book provides a classification system to clarify the disease implications of cytogenetically visible copy number variants using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, how to visually circumvent these benign areas and provide laser-focused assessment of disease implications is not always appreciated by practitioners used only to highly costly molecular profiling methods (FISH / aCGH / NGS). Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors in helping to distinguish benign from harmful CG-CNV. It also supports them in further assessment of which molecular cytogenetics tools to deploy.
Detailed discussion of 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, cutting 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

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بستن

فرمت کتاب

ebook

زبان

english

تاریخ انتشار

2013

نویسنده

Thomas Liehr

ناشر

Academic Press

شابک

9780124046313

20,000 تومان

خرید کتاب مطالعه نمونه درخواست ترجمه کتاب

خرید کتاب Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances

گزارش تخلف

فرمت کتاب

ebook

زبان

english

تاریخ انتشار

2013

نویسنده

ناشر

شابک

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