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Article

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

European journal of human genetics : EJHG - 1 Feb 2017

Trujillano Daniel, Bertoli-Avella Aida M, Kumar Kandaswamy Krishna, Weiss Maximilian Er, Köster Julia, Marais Anett, Paknia Omid, Schröder Rolf, Garcia-Aznar Jose Maria, Werber Martin, Brandau Oliver, Calvo Del Castillo Maria, Baldi Caterina, Wessel Karen, Kishore Shivendra, Nahavandi Nahid, Eyaid Wafaa, Al Rifai Muhammad Talal, Al-Rumayyan Ahmed, Al-Twaijri Waleed, Alothaim Ali, Alhashem Amal, Al-Sannaa Nouriya, Al-Balwi Mohammed, Alfadhel Majid, Rolfs Arndt, Abou Jamra Rami

Abstract excerpt

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27848944
DOI: 10.1038/ejhg.2016.146
PMCID: PMC5255946

Genes

FRMPD4
KCTD3
PPOX
PTPN23

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