|
|
|
|
| LEADER |
01000naa a22002652 4500 |
| 001 |
NLM377509752 |
| 003 |
DE-627 |
| 005 |
20240912233927.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
240912s2024 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1080/07366205.2024.2387993
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1531.xml
|
| 035 |
|
|
|a (DE-627)NLM377509752
|
| 035 |
|
|
|a (NLM)39263936
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Jalilzadeh, Shapour
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a When is an SNP not an SNP?
|
| 264 |
|
1 |
|c 2024
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Revised 12.09.2024
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status Publisher
|
| 520 |
|
|
|a Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have not been systematically assessed due to limitations around mapping short-read sequencing data. Single-nucleotide variant rs62486260 was flagged in a study of familial renal stone disease but it was unclear whether it was real or an artifact resulting from the presence of a SD. We describe in silico and wet-lab approaches to investigate this, using segment-specific long-PCR assays, followed by short PCR for Sanger sequencing. Our conclusion was that rs62486260 is an artifact. Our approach can be generalized to deal with other such situations
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a PCR
|
| 650 |
|
4 |
|a SNV
|
| 650 |
|
4 |
|a Sanger sequencing
|
| 650 |
|
4 |
|a T2T
|
| 650 |
|
4 |
|a TCAF2
|
| 650 |
|
4 |
|a genotype
|
| 650 |
|
4 |
|a in silico
|
| 650 |
|
4 |
|a pseudogene
|
| 650 |
|
4 |
|a segmental duplication
|
| 700 |
1 |
|
|a Walker, Valerie
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Leggatt, Gary P
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Hatchwell, Eli
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t BioTechniques
|d 1988
|g (2024) vom: 12. Sept., Seite 1-9
|w (DE-627)NLM012627046
|x 1940-9818
|7 nnns
|
| 773 |
1 |
8 |
|g year:2024
|g day:12
|g month:09
|g pages:1-9
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1080/07366205.2024.2387993
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_21
|
| 912 |
|
|
|a GBV_ILN_22
|
| 912 |
|
|
|a GBV_ILN_39
|
| 912 |
|
|
|a GBV_ILN_40
|
| 912 |
|
|
|a GBV_ILN_50
|
| 912 |
|
|
|a GBV_ILN_60
|
| 912 |
|
|
|a GBV_ILN_62
|
| 912 |
|
|
|a GBV_ILN_65
|
| 912 |
|
|
|a GBV_ILN_70
|
| 912 |
|
|
|a GBV_ILN_99
|
| 912 |
|
|
|a GBV_ILN_121
|
| 912 |
|
|
|a GBV_ILN_130
|
| 912 |
|
|
|a GBV_ILN_227
|
| 912 |
|
|
|a GBV_ILN_350
|
| 912 |
|
|
|a GBV_ILN_618
|
| 912 |
|
|
|a GBV_ILN_640
|
| 912 |
|
|
|a GBV_ILN_754
|
| 912 |
|
|
|a GBV_ILN_2001
|
| 912 |
|
|
|a GBV_ILN_2002
|
| 912 |
|
|
|a GBV_ILN_2003
|
| 912 |
|
|
|a GBV_ILN_2005
|
| 912 |
|
|
|a GBV_ILN_2006
|
| 912 |
|
|
|a GBV_ILN_2007
|
| 912 |
|
|
|a GBV_ILN_2008
|
| 912 |
|
|
|a GBV_ILN_2009
|
| 912 |
|
|
|a GBV_ILN_2010
|
| 912 |
|
|
|a GBV_ILN_2012
|
| 912 |
|
|
|a GBV_ILN_2015
|
| 912 |
|
|
|a GBV_ILN_2018
|
| 912 |
|
|
|a GBV_ILN_2023
|
| 912 |
|
|
|a GBV_ILN_2035
|
| 912 |
|
|
|a GBV_ILN_2040
|
| 912 |
|
|
|a GBV_ILN_2060
|
| 912 |
|
|
|a GBV_ILN_2099
|
| 912 |
|
|
|a GBV_ILN_2105
|
| 912 |
|
|
|a GBV_ILN_2121
|
| 912 |
|
|
|a GBV_ILN_2470
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|j 2024
|b 12
|c 09
|h 1-9
|