Clinical Dna Variant Interpretation
Download Clinical Dna Variant Interpretation PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Clinical Dna Variant Interpretation book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages.
Clinical DNA Variant Interpretation
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. - Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume - Features chapter contributions from international leaders in the field - Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Handbook of Statistical Genomics
Author: David J. Balding
language: en
Publisher: John Wiley & Sons
Release Date: 2019-07-09
A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.
HEALTH& SCIENCE 2023-II
CONTENTS CLINICAL VARIANT INTERPRETATION IN GENETICS - Mustafa Tarık ALAY INVESTIGATION OF EPIGENETICS AND GENETIC BIOMARKERS IN CANCER DIAGNOSIS: LIQUID BIOPSY - Elif ERTÜRK IMMUNOTHERAPY IN CANCER TREATMENT - Hayrani Eren BOSTANCI, Faruk Kaan ÇELİK, İnci TEMUR CHRONIC VENOUS INSUFFICIENCY AND PHYSIOTHERAPY - Sıla ÇELİK, Ömer ŞEVGİN CURRENT DIAGNOSTIC METHODS IN CORONARY ARTERY DISEASES - Ayşegül DURMAZ, Şadan YAVUZ LUMBAR TRANSFORAMINAL EPIDURAL STEROID INJECTIONS - Ahmet Tolgay AKINCI CATARACT TYPES AND CURRENT TREATMENT APPROACHES - Göksu ALAÇAMLI THE IMPORTANCE OF THE ANATOMICAL STRUCTURE OF MAXILLARY SINUS IN ORAL AND MAXILLOFACIAL SURGERY: A REVIEW OF THE LITERATURE - Raha AKBARİHAMED, Hacer EBERLİKÖSE, Arif Yiğit GÜLER CLOSED RHINOPLASTY - Ahmet KÖDER CLAVICLE FRACTURES: CURRENT CONCEPTS - Eşref SELÇUK, Cihan ÜNYILMAZ PEDIATRIC SUPRACONYLAR HUMERUS FRACTURES - Doğukan ERKAL, Murat EREM NON-PROSTHETIC TREATMENT OPTIONS FOR JOINT CARTILAGE INJURIES - Erdem ÖZDEN PERSONALIZED MEDICAL GRAFT AND GRAFT MOLDING SUPPORTED BY ARTIFİCIAL INTELLIGENCE - BAŞAK ÇAKMAK, GIRAY ÖTKEN, AHMET TOLGAY AKINCI DRUG DISCOVERY WITH COMPUTER AIDED DRUG DESIGN METHODS - Okan AYKAÇ, Burçin TÜRKMENOĞLU