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Exome sequencing for syndrome diagnostics

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@article{bdcf42a55a014d02839c4bdaf9fed6ed,
title = "Exome sequencing for syndrome diagnostics",
abstract = "The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50{\%}. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.",
keywords = "English Abstract, Journal Article",
author = "Elsebet {\O}stergaard and Lotte Risom and Jakob Ek and Sabine Gr{\o}nborg and Morten Dun{\o} and Flemming Skovby",
year = "2017",
month = "4",
day = "24",
language = "English",
volume = "179",
pages = "V10160762",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "17",

}

RIS

TY - JOUR

T1 - Exome sequencing for syndrome diagnostics

AU - Østergaard, Elsebet

AU - Risom, Lotte

AU - Ek, Jakob

AU - Grønborg, Sabine

AU - Dunø, Morten

AU - Skovby, Flemming

PY - 2017/4/24

Y1 - 2017/4/24

N2 - The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.

AB - The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.

KW - English Abstract

KW - Journal Article

M3 - Journal article

VL - 179

SP - V10160762

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 17

ER -

ID: 52176091