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Journals / Erciyes Tıp Dergisi / 2014 / Cilt: 36 - Sayı: 4

Mendel hastalık geni tanımlaması için yeni nesil ekzom sekanslama ekzom sekanslama ve Mendel bozuklukları

Exome sequencing for the identifcation of mendelian disease genes

Pervin DİNÇER
Gülsüm KÜREKÇİ KAYMAN
Pages
139–143
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this review, exome sequencing approaches that are used to identify genetic causes of monogenicdisorders and the pros and cons of conventional methods are presented.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Over the past several years, next-generation DNA sequencing technologies are used for the identifcation of genes responsiblefor Mendelian disorders and genetic variants related to common disorders.
📊
Key Findings & Data:Different strategies used in previous studies constitute an important source for futurestudies on genetic disorders.
💡
Conclusion & Impact:In this review, exome sequencing approaches that are used to identify genetic causes of monogenicdisorders and the pros and cons of conventional methods are presented.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Over the past several years, next-generation DNA sequencing technologies are used for the identifcation of genes responsiblefor Mendelian disorders and genetic variants related to common disorders. The development of exome sequencing and analysisapproaches according to inheritance and pedigree information helps to overcome the majority of limitations encountered bytraditional genetic mapping approaches. Different strategies used in previous studies constitute an important source for futurestudies on genetic disorders. In this review, exome sequencing approaches that are used to identify genetic causes of monogenicdisorders and the pros and cons of conventional methods are presented.

Özet

Son birkaç yıl içinde, yeni nesil DNA sekanslama teknolojileri Mendel bozukluklarından ve sık görülen bozukluklarla ilgili genetik varyantlardan sorumlu genlerin tanımlanması için kullanılmaktadır. Ekzom sekanslama uygulaması ve soyağacı bilgileri ve kalıtımla ilgili analiz yaklaşımlarının gelişimi, geleneksel genetik haritalama yaklaşımlarında karşılaşılan kısıtlılıkların çoğunun üstesinden gelmeye yardımcı olur. Önceki çalışmalarda kullanılan farklı stratejiler genetik bozukluklar hakkında gelecekteki çalışmalar için önemli bir kaynak oluşturmaktadır. Bu derlemede, monogenik hastalıkların genetik nedenlerini tanımlamak için kullanılan yeni nesil ekzom sekanslama yaklaşımları ve geleneksel metodun artıları ve eksileri sunulmaktadır.

🔖

Cite This Article

DİNÇER, P., KAYMAN, G. K. (2022). Mendel hastalık geni tanımlaması için yeni nesil ekzom sekanslama ekzom sekanslama ve Mendel bozuklukları. Erciyes Tıp Dergisi, Cilt: 36 - Sayı: 4, 139–143. https://ajindex.com/articles/502352

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