All screenings for gene DPYD

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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:

DNA
RNA = RNA (cDNA)
protein
? = unknown

Technique: technique(s) used to identify the sequence variant.
All options:

? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable

Tissue: tissue type used for analysis

Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

78 entries on 1 page. Showing entries 1 - 78.

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How to query

Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000000003	00000003	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000000004	00000004	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000011	00000011	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000012	00000012	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000014	00000014	DNA	SEQ-NG	-	-	22	Global Variome, with Curator vacancy
0000000015	00000015	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000016	00000016	DNA	SEQ-NG	-	-	10	Global Variome, with Curator vacancy
0000000017	00000017	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000018	00000018	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000000022	00000022	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000023	00000023	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000024	00000024	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000000027	00000027	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000031	00000031	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000033	00000033	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000034	00000034	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000035	00000035	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000036	00000036	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000037	00000037	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000038	00000038	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000039	00000039	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000040	00000040	DNA	SEQ-NG	-	-	4	Global Variome, with Curator vacancy
0000000041	00000041	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000042	00000042	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000043	00000043	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000044	00000044	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000045	00000045	DNA	SEQ-NG	-	-	7	Global Variome, with Curator vacancy
0000000046	00000046	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000047	00000047	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000048	00000048	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000049	00000049	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000050	00000050	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000051	00000051	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000052	00000052	DNA	SEQ-NG	-	-	5	Global Variome, with Curator vacancy
0000000053	00000053	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000054	00000054	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000055	00000055	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000056	00000056	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000057	00000057	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000017020	00017040	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017021	00017041	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017022	00017042	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017023	00017043	DNA;RNA	RT-PCR;SEQ	-	-	Not yet submitted	Johan den Dunnen
0000017024	00017044	DNA	SEQ	-	-	3	Johan den Dunnen
0000017550	00017570	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017551	00017571	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017552	00017572	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017553	00017573	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017554	00017574	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017555	00017575	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017556	00017576	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017557	00017577	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017566	00017583	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017567	00017584	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017568	00017585	DNA	SEQ	-	-	1	Johan den Dunnen
0000017569	00017586	DNA	SEQ	-	-	3	Johan den Dunnen
0000017570	00017587	DNA	SEQ	-	-	3	Johan den Dunnen
0000017571	00017588	DNA	SEQ	-	-	2	Johan den Dunnen
0000017572	00017589	DNA	SEQ	-	-	2	Johan den Dunnen
0000017573	00017590	DNA	SEQ	-	-	1	Johan den Dunnen
0000017574	00017591	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017575	00017592	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017576	00017593	DNA;RNA	RT-PCR;SEQ	-	-	2	Johan den Dunnen
0000017577	00017594	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000017578	00017595	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000019526	00019541	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000101653	00101228	DNA	SEQ	-	-	1	Johan den Dunnen
0000106635	00106166	DNA	SEQ	-	-	1	Johan den Dunnen
0000156601	00155716	DNA;RNA	RT-PCR;SEQ;SEQ-NG-I	-	-	1	Maja Tarailo-Graovac
0000229751	00228661	DNA	SEQ	-	-	1	Johan den Dunnen
0000229752	00228662	DNA	SEQ	-	-	1	Johan den Dunnen
0000229753	00228663	DNA	SEQ	-	-	1	Johan den Dunnen
0000229754	00228664	DNA	SEQ	-	-	1	Johan den Dunnen
0000229755	00228665	DNA;RNA	RT-PCR;SEQ	-	-	20	Johan den Dunnen
0000229756	00228666	DNA	SEQ	-	-	2	Johan den Dunnen
0000290604	00289434	DNA	SEQ-NG	-	-	1	Nedal Bukhari
0000316062	00314888	DNA	SEQ;SEQ-NG	-	trio WES	1	Johan den Dunnen
0000325652	00324460	DNA	SEQ;SEQ-NG	-	gene panel	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

DPYD (dihydropyrimidine dehydrogenase)