کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5646651 | 1407069 | 2016 | 13 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Exome and genome sequencing for inborn errors of immunity
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کلمات کلیدی
CIDpolymorphism phenotyping v2X-linked recessiveVCFCADDpolyphen2RAGWESIPSCMSCWGSCNVGDIGOFSIFTNGSLOFPIDAutosomal Dominant - اتسومال غالبAutosomal recessive - اتوزومال مغلوبloss of function - از دست دادن عملکردGain of function - به دست آوردن عملکردNext-generation sequencing - تعیین توالی نسل بعدیTargeted sequencing - توالی انتخابیWhole-exome sequencing - توالی کامل exomeWhole-genome sequencing - توالی کامل ژنومvariant call format - فرمت تماس نوعیAllele frequency - فرکانس آللوSorting Intolerant From Tolerant - مرتب کردن غیر قابل تحمل از تحملCopy number variant - نسخه شماره نسخه را کپی کنیدRecombination-Activating Gene - ژن فعال سازی مجدد ترکیبprimary immunodeficiency - کمبود ایمنی اولیهCombined immunodeficiency - کمبود ایمنی همراه
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
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چکیده انگلیسی
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery of novel disease-causing genes and the genetic diagnosis of patients with monogenic inborn errors of immunity. Whole-exome sequencing (WES) is presently the most cost-effective approach for research and diagnostics, although whole-genome sequencing offers several advantages. The scientific or diagnostic challenge consists in selecting 1 or 2 candidate variants among thousands of NGS calls. Variant- and gene-level computational methods, as well as immunologic hypotheses, can help narrow down this genome-wide search. The key to success is a well-informed genetic hypothesis on 3 key aspects: mode of inheritance, clinical penetrance, and genetic heterogeneity of the condition. This determines the search strategy and selection criteria for candidate alleles. Subsequent functional validation of the disease-causing effect of the candidate variant is critical. Even the most up-to-date dry lab cannot clinch this validation without a seasoned wet lab. The multifariousness of variations entails an experimental rigor even greater than traditional Sanger sequencing-based approaches in order not to assign a condition to an irrelevant variant. Finding the needle in the haystack takes patience, prudence, and discernment.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Allergy and Clinical Immunology - Volume 138, Issue 4, October 2016, Pages 957-969
Journal: Journal of Allergy and Clinical Immunology - Volume 138, Issue 4, October 2016, Pages 957-969
نویسندگان
Isabelle MD, PhD, Barbara MD, Alexandre PhD, Bertrand PhD, Yuval PhD, Aziz PhD, Vincent PhD, Leen PhD, Capucine MD, PhD, Aurélie MD, PhD, Xavier MD, PhD, Laurent MD, PhD, Jean-Laurent MD, PhD,