Results 241 to 250 of about 122,559 (261)

Exome sequencing as a tool for Mendelian disease gene discovery

Nature Reviews Genetics, 2011
Jay Shendure, , Deborah A Nickerson
exaly  

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Proceedings of the National Academy of Sciences of the United States of America, 2015
Bertrand Boisson, Laurent Abel, Aurélie Cobat   +2 more
exaly  

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Genetics in Medicine, 2015
Zoe Powis, Hong Lu
exaly  

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in Medicine, 2013
Julianne O'Daniel, Marc Williams, Michael Watson   +2 more
exaly  

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

American Journal of Respiratory and Critical Care Medicine, 2017
David Goldstein, Quanli Wang, Scott Palmer   +2 more
exaly  

Exome Sequencing

Neeru S. Redhu, Bharat Garg, Jyoti Taunk, Vikram Singh, Jayanti Tokas, Shikha Yashveer   +5 more
openaire   +1 more source

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Genetics in Medicine, 2017
Natasha Strande, Alicia Brandt, Ann Foreman   +2 more
exaly  

Novel bioinformatic developments for exome sequencing

Human Genetics, 2016
Joris A Veltman, Christian Gilissen, Lelieveld Stefan H   +2 more
exaly  

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Human Mutation, 2013
Richard Rodenburg, Carlo Marcelis, Hannie Kremer   +2 more
exaly  

The usefulness of whole-exome sequencing in routine clinical practice

Genetics in Medicine, 2014
Elfrida Malkin, Kwame Anyane-Yeboa, Julia Wynn   +2 more
exaly