Variant Calling PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Variant Calling PDF full book. Access full book title Variant Calling by Charlotte Ng. Download full books in PDF and EPUB format.
Author: Charlotte Ng
Publisher: Springer Nature
ISBN: 1071622935
Category : Science
Languages : en
Pages : 352
Get Book
Book Description
This volume provides practical guidance on a variety of techniques and steps to ensure successful variant calling. Chapters detail methods for variant calling from single-nucleotide variants to structural variants, variant calling in specialized data types such as RNA-seq and UMI-tagged sequencing, alignment-free genotyping and SNP calling, variant detection in single-cell DNA sequencing data, variant annotation, and preanalytical quality control to ensure successful variant calling. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists step-by-step protocol to execute the algorithms, describes the input and output data, and includes tips on troubleshooting and known pitfalls. Authoritative and cutting-edge, Variant Calling: Methods and Protocols aims to be a foundation for future studies and to be a source of inspiration for new investigations in the field.
Author: Robison Wells
Publisher: Harper Collins
ISBN: 0062093517
Category : Young Adult Fiction
Languages : en
Pages : 206
Get Book
Book Description
Benson Fisher thought that a scholarship to Maxfield Academy would be the ticket out of his dead-end life. He was wrong. Now he’s trapped in a school that’s surrounded by a razor-wire fence. A school where video cameras monitor his every move. Where there are no adults. Where the kids have split into groups in order to survive. Where breaking the rules equals death. But when Benson stumbles upon the school’s real secret, he realizes that playing by the rules could spell a fate worse than death, and that escape—his only real hope for survival—may be impossible.
Author: Charlotte Ng
Publisher: Springer Nature
ISBN: 1071622935
Category : Science
Languages : en
Pages : 352
Get Book
Book Description
This volume provides practical guidance on a variety of techniques and steps to ensure successful variant calling. Chapters detail methods for variant calling from single-nucleotide variants to structural variants, variant calling in specialized data types such as RNA-seq and UMI-tagged sequencing, alignment-free genotyping and SNP calling, variant detection in single-cell DNA sequencing data, variant annotation, and preanalytical quality control to ensure successful variant calling. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists step-by-step protocol to execute the algorithms, describes the input and output data, and includes tips on troubleshooting and known pitfalls. Authoritative and cutting-edge, Variant Calling: Methods and Protocols aims to be a foundation for future studies and to be a source of inspiration for new investigations in the field.
Author: Tim Weilkiens
Publisher: Lulu.com
ISBN: 3981787579
Category :
Languages : en
Pages : 100
Get Book
Book Description
SysML does not provide explicit built-in language constructs to model variants. Nevertheless SysML is useful to create a model for variants. The VAMOS method presented in the book Variant Modeling with SysML is one option how to model variants with SysML.
Author: World Health Organization
Publisher: World Health Organization
ISBN: 9240051821
Category : Medical
Languages : en
Pages : 20
Get Book
Book Description
Author: Annie Tsz Wai Chu
Publisher: OAE Publishing Inc.
ISBN:
Category : Medical
Languages : en
Pages : 10
Get Book
Book Description
Kindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is characterised by congenital blistering, skin fragility, photosensitivity, and poikilodermatous skin changes. It is an autosomal recessive condition with an established disease-causing mechanism of having biallelic pathogenic variants in the FERMT1 gene. Multiple variants have been reported worldwide since the discovery in 1954. This case report describes two patients of Chinese descent with molecularly confirmed KS, one diagnosed in infancy while the other in mid-adulthood. It highlights the importance and clinical utility of diagnosing KS in children versus adults. The identification of recurrent c.811C>T variant in both patients also expedited the review of local databases and the existing mutation spectrum KS in East Asians.
Author: Theodore Eliot Keats
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 656
Get Book
Book Description
Author: Daniele Dell'Orco
Publisher: Frontiers Media SA
ISBN: 2832543715
Category : Science
Languages : en
Pages : 146
Get Book
Book Description
One of the key goals in the postgenomic era is the elucidation of the mechanisms underlying the relationship between genotype and phenotype. In particular, understanding how human genetic and somatic variations are associated with diseases is still an open problem and its solution is a crucial issue for exploiting the possibilities offered by the modern sequencing techniques in the framework of precision and personalized medicine. The increasing amount of data generated by the sequencing initiatives calls for accurate and reliable computational approaches to predict the impact of mutations on the phenotype, and possibly for methods to correlate them with diseases. From the experimental point of view, disease-causing variants are supposed to directly affect protein function, protein stability as well as the kinetics and thermodynamics of protein-protein recognition, and robust validation at the molecular scale is necessary. This approach can be of invaluable help in facing new challenges such as the fast development of effective vaccines.
Author: Conxi Lázaro
Publisher: Academic Press
ISBN: 0128205202
Category : Medical
Languages : en
Pages : 436
Get Book
Book Description
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
Author: Alavoor Venkatavaradhan Murali
Publisher: One Point Six Technology Pvt Ltd
ISBN: 9381115745
Category : Self-Help
Languages : en
Pages : 251
Get Book
Book Description
Chess is a game of wits that calls for strategy, tactics and intuition. The game has a long history spanning several centuries and has been played the world over for it develops strategic thinking and tactical planning skills. Chess is intellectually stimulating and challenging - and offers limitless possibilities at every stage of play. The very nature of the game makes it amenable to systematic study and mastery over time. There are several variants of Chess which offer a level-playing field for amateurs who can think logically. This book is the outcome of the author's curiosity about new Chess variants which can be played on boards with different geometries, different sets of rules with different objectives. This entirely new look at Chess offers: Chess inspired games that reflect situations and events from daily life. Games inspired by popular sports such as squash, volleyball and cricket. Chess games as a motivational tool in education to help students develop interest and liking for their subjects and achieve better academic performance. Chess inspired puzzles. Chess as an outdoor sport and indoor team-game. A. V. Murali's engrossing book highlights the different perspectives of Chess - showcasing its broader applicability, not just for amusement, but for physical and intellectual development as well.
Author: Pragya Dhruv Yadav
Publisher: Frontiers Media SA
ISBN: 283251734X
Category : Science
Languages : en
Pages : 687
Get Book
Book Description
