The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population (Q61445856)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30665423%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

title

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population (English)

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20 April 2020

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24

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20 April 2020

author name string

Nadine Jalkh

1

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20 April 2020

Sandra Corbani

2

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20 April 2020

Zahraa Haidar

3

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20 April 2020

Nadine Hamdan

4

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20 April 2020

Elias Farah

5

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20 April 2020

Joelle Abou Ghoch

6

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20 April 2020

Rouba Ghosn

7

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20 April 2020

Nabiha Salem

8

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20 April 2020

Ali Fawaz

9

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20 April 2020

Claudia Djambas Khayat

10

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20 April 2020

Mariam Rajab

11

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20 April 2020

Chebl Mourani

12

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20 April 2020

Adib Moukarzel

13

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20 April 2020

Simon Rassi

14

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20 April 2020

Bernard Gerbaka

15

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20 April 2020

Hicham Mansour

16

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20 April 2020

Malek Baassiri

17

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20 April 2020

Rawane Dagher

18

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20 April 2020

David Breich

19

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20 April 2020

André Mégarbané

20

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20 April 2020

Jean Pierre Desvignes

21

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20 April 2020

Valérie Delague

22

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20 April 2020

Cybel Mehawej

23

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language of work or name

English

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publication date

21 January 2019

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20 April 2020

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20 April 2020

volume

12

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20 April 2020

page(s)

11

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20 April 2020

issue

1

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Creative Commons Attribution 4.0 International

20 April 2020

copyright license

start time

21 January 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s12920-019-0474-y

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cites work

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Power of deep, all-exon resequencing for discovery of human trait genes

1 reference

12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

12 December 2020

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

12 December 2020

Automated inference of molecular mechanisms of disease from amino acid substitutions.

1 reference

12 December 2020

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

12 December 2020

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

1 reference

12 December 2020

Charting a course for genomic medicine from base pairs to bedside

1 reference

12 December 2020

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

12 December 2020

Exome sequencing: a transformative technology

1 reference

12 December 2020

Exome sequencing: dual role as a discovery and diagnostic tool

1 reference

12 December 2020

Exome sequencing can improve diagnosis and alter patient management

1 reference

12 December 2020

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

1 reference

12 December 2020

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

1 reference

12 December 2020

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

1 reference

12 December 2020

Secretory diarrhoea: mechanisms and emerging therapies

1 reference

12 December 2020

Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World

1 reference

12 December 2020

VarAFT: a variant annotation and filtration system for human next generation sequencing data.

1 reference

12 December 2020

10.1186/S12920-019-0474-Y

Identifiers

DOI

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Dimensions Publication ID

20 April 2020

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20 April 2020

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