نتایج جستجو برای: exome sequencing

تعداد نتایج: 127939  

2016
Wenhui Laura Li

Next-generation sequencing (NGS) has been revolutionary for the clinical diagnostics field. With its high throughput sequencing power and plummeting cost, it has been increasingly used in clinical labs. Instead of testing the candidate genes one at a time by Sanger sequencing, now a lab can test a group of candidate genes at the same time using the NGS method. For example, many clinical labs no...

2013
Nzali Campbell Gianfranco Sinagra Kenneth L. Jones Dobromir Slavov Katherine Gowan Marco Merlo Elisa Carniel Pamela R. Fain Pierluigi Aragona Andrea Di Lenarda Luisa Mestroni Matthew R. G. Taylor

Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene using segregation analysis in a large DCM family. Exome sequencing was performed on three distant...

2015
Eric Samorodnitsky Benjamin M. Jewell Raffi Hagopian Jharna Miya Michele R. Wing Ezra Lyon Senthilkumar Damodaran Darshna Bhatt Julie W. Reeser Jharna Datta Sameek Roychowdhury

Next-generation sequencing has aided characterization of genomic variation. While whole-genome sequencing may capture all possible mutations, whole-exome sequencing remains cost-effective and captures most phenotype-altering mutations. Initial strategies for exome enrichment utilized a hybridization-based capture approach. Recently, amplicon-based methods were designed to simplify preparation a...

2014
T Rigter CJA van Aart MW Elting Q Waisfisz MC Cornel L Henneman

Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, w...

Journal: :JAMA 2014
Yaping Yang Donna M Muzny Fan Xia Zhiyv Niu Richard Person Yan Ding Patricia Ward Alicia Braxton Min Wang Christian Buhay Narayanan Veeraraghavan Alicia Hawes Theodore Chiang Magalie Leduc Joke Beuten Jing Zhang Weimin He Jennifer Scull Alecia Willis Megan Landsverk William J Craigen Mir Reza Bekheirnia Asbjorg Stray-Pedersen Pengfei Liu Shu Wen Wendy Alcaraz Hong Cui Magdalena Walkiewicz Jeffrey Reid Matthew Bainbridge Ankita Patel Eric Boerwinkle Arthur L Beaudet James R Lupski Sharon E Plon Richard A Gibbs Christine M Eng

IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings su...

2017
Shiro Fujita Katsuhiro Masago Chiyuki Okuda Akito Hata Reiko Kaji Nobuyuki Katakami Yukio Hirata

Errors in sequencing are a major obstacle in the interpretation of next-generation sequencing (NGS) results. In the present study, sequencing errors identified from analysis of single nucleotide variants (SNVs) identified during exome sequencing of human germline DNA were studied using the Thermo Fisher Ion Proton System. Two consanguineous cases were selected for sequencing using the AmpliSeq ...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علوم بهزیستی و توانبخشی - دانشکده پزشکی 1394

افراد با عمر بالای 110 سال به طور معمول بیماری های مرتبط با افزایش سن را تا آخرین سال های عمرخود بروز نمی دهند، به همین دلیل مطالعه ی اساس ژنتیکی پدیده ی طول عمر بیش از حد معمول از اهمیت بالایی برخوردار است. آشکار است که فاکتورهای ژنتیکی نقش برجسته ای در ادامه ی حیات پس از نود سال بازی می کنند ، اما نحوه ارتباط بین واریانت های ژنتیکی و این پدیده هنوز مبهم است. هدف از انجام این پروژه بررسی همین ...

2018
Aleksandra Stajkovska Sanja Mehandziska Margarita Stavrevska Kristina Jakovleva Natasha Nikchevska Zan Mitrev Ivan Kungulovski Gjorgje Zafiroski Velibor Tasic Goran Kungulovski

Citation: Stajkovska A, Mehandziska S, Stavrevska M, Jakovleva K, Nikchevska N, Mitrev Z, Kungulovski I, Zafiroski G, Tasic V and Kungulovski G (2018) Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. Front. Genet. 9:113. doi: 10.3389/fgene.2018.00113 Trio Clinical Exome Sequencing in a Patient With Multicentric Carp...

Journal: :Cell 2011
Amy Maxmen

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.

Journal: :Jornal de pediatria 2015
Paula Cristina Barros Pereira Flávia Medeiros Melo Luiz Armando Cunha De Marco Eduardo Araújo Oliveira Débora Marques Miranda Ana Cristina Simões e Silva

OBJECTIVE Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole-exome sequencing. METHODS Two unrelated families were selected; a total of four children with dRTA and their parents, in order to perform whole-exome sequencing...

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