This HTML5 document contains 82 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n13http://localhost/temp/predkladatel/
n7http://linked.opendata.cz/resource/domain/vavai/projekt/
n4http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n21http://linked.opendata.cz/resource/domain/vavai/subjekt/
n16http://linked.opendata.cz/ontology/domain/vavai/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
n3http://linked.opendata.cz/ontology/domain/vavai/riv/
n11http://bibframe.org/vocab/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n8http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n19http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n10http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00216208%3A11110%2F13%3A10192105%21RIV14-MZ0-11110___/
n9http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n6http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n20http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n5http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n14http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F13%3A10192105%21RIV14-MZ0-11110___
rdf:type
skos:Concept n16:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/ng.2543
dcterms:description
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (similar to 1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing. Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (similar to 1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing.
dcterms:title
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
skos:prefLabel
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
skos:notation
RIV/00216208:11110/13:10192105!RIV14-MZ0-11110___
n16:predkladatel
n21:orjk%3A11110
n3:aktivita
n6:P n6:I
n3:aktivity
I, P(LH12015), P(NT13116)
n3:cisloPeriodika
3
n3:dodaniDat
n14:2014
n3:domaciTvurceVysledku
n4:1708988 n4:3909581 n4:4288246 n4:6046088 n4:9809163
n3:druhVysledku
n20:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n10:predkladatel
n3:idSjednocenehoVysledku
90239
n3:idVysledku
RIV/00216208:11110/13:10192105
n3:jazykVysledku
n9:eng
n3:klicovaSlova
map; mckd1; locus; linkage; refinement; chromosome 1q21; genetic diagnosis
n3:klicoveSlovo
n8:mckd1 n8:refinement n8:locus n8:map n8:linkage n8:chromosome%201q21 n8:genetic%20diagnosis
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[E3A69A44BAD9]
n3:nazevZdroje
Nature Genetics
n3:obor
n5:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
43
n3:projekt
n7:NT13116 n7:LH12015
n3:rokUplatneniVysledku
n14:2013
n3:svazekPeriodika
45
n3:tvurceVysledku
Guttman, Mitchell Jaffe, David B. Ye, Chun Antignac, Corinne Stevens, Christine Kirby, Andrew Blumenstiel, Brendan Sovová, Jana Barešová, Veronika Rossin, Elizabeth Cabili, Moran N. Bleyer, A. J. Gnirke, Andreas Parkin, Melissa Green, Todd DeFelice, Matthew Kelliher, Edward Perrin, Danielle Steelman, Scott Daza, Riza Sigurdsson, Snaevar Cibulskis, Kristian Gat-Viks, Irit Aird, Daniel Vyleťal, Petr Pochet, Nathalie Kmoch, Stanislav Sougnez, Carrie Hůlková, Helena Scheinman, Steven J. Robinson, James T. Handsaker, Robert E.
n3:wos
000315664800015
s:issn
1061-4036
s:numberOfPages
5
n11:doi
10.1038/ng.2543
n13:organizacniJednotka
11110