single_sample_example.xml

<?xml version="1.0" encoding="UTF-8"?>
<!--XML-Beispieldatei von XMLSpy generiert v2014 (x64) (http://www.altova.com)-->
<Sample xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" name="sample_name" type="DNA" is_tumor="false" is_ffpe="false" species="human"  gender="male" quality="medium" xsi:noNamespaceSchemaLocation="NGS_exchange.xsd">
	<KitInformation name="Agilent Exome v7" type="WES" shotgun="true">
		<TargetRegion build="GRCh37">chr1	69070	70028
chr1	621075	622054
chr1	861301	861413
chr1	865514	865736
chr1	866398	866489
chr1	871131	871296
chr1	874399	874529
chr1	874631	874860
chr1	876503	876706
chr1	877495	877651
...
		</TargetRegion>
	</KitInformation>
	<DiseaseInformation disease_status="Affected" age_of_onset="6">
		<HPO id="HP:0001272"/>
		<HPO id="HP:0001272"/>
		<ICD10 code="G11.9"/>
	</DiseaseInformation>
	<DiagnosticsInformation outcome="significant findings" genes="ACO2" inheritance="autosomal recessive" comments="some text, e.g. the variant that was found"/>
</Sample>