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Original file line number | Diff line number | Diff line change |
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@@ -2,12 +2,13 @@ | |
PMID- 39710066 | ||
OWN - NLM | ||
STAT- Publisher | ||
LR - 20241222 | ||
LR - 20241230 | ||
IS - 1096-1194 (Electronic) | ||
IS - 0890-8508 (Linking) | ||
DP - 2024 Dec 20 | ||
TI - High-resolution repeat structure analysis in molecular diagnostics of myotonic | ||
dystrophy type 1 using short-read whole genome sequencing. | ||
VI - 79 | ||
DP - 2024 Dec 29 | ||
TI - Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read | ||
whole genome sequencing. | ||
PG - 102005 | ||
LID - S0890-8508(24)00057-4 [pii] | ||
LID - 10.1016/j.mcp.2024.102005 [doi] | ||
|
@@ -29,7 +30,7 @@ AB - Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused b | |
expansion-range/premutation-range alleles. Although neither the tested | ||
conventional methods, nor WGS allowed expanded-allele sizing, conventional | ||
methods provided higher sizing limits for normal-range alleles. Genotyping | ||
concordance rate was found to be 95-99%. WGS was found to be superior in | ||
concordance rate was found to be 95-99 %. WGS was found to be superior in | ||
elucidating the sequence structure of the motifs, even if they fall outside the | ||
sizing limit (from partial reads). In addition, WGS enables the identification of | ||
genetic modifiers in other genes and the detection of alternative diagnoses in | ||
|
@@ -62,8 +63,8 @@ FAU - Zatkova, Andrea | |
AU - Zatkova A | ||
AD - Institute of Clinical and Translational Research, Biomedical Research Center of | ||
the Slovak Academy of Sciences, Bratislava, Slovakia. | ||
FAU - Tarova, Eva Tothova | ||
AU - Tarova ET | ||
FAU - Tothova Tarova, Eva | ||
AU - Tothova Tarova E | ||
AD - Institute of Clinical and Translational Research, Biomedical Research Center of | ||
the Slovak Academy of Sciences, Bratislava, Slovakia; Department of Biology, | ||
Faculty of Education, J. Selye University, Komarno, Slovakia. | ||
|
@@ -90,19 +91,19 @@ AD - Institute of Clinical and Translational Research, Biomedical Research Cent | |
Slovakia. Electronic address: [email protected]. | ||
LA - eng | ||
PT - Journal Article | ||
DEP - 20241220 | ||
DEP - 20241229 | ||
PL - England | ||
TA - Mol Cell Probes | ||
JT - Molecular and cellular probes | ||
JID - 8709751 | ||
SB - IM | ||
OTO - NOTNLM | ||
OT - massively parallel sequencing | ||
OT - myotonic dystrophy type 1 | ||
OT - repeat expansion disorders | ||
OT - tandem repeats | ||
OT - whole genome sequencing | ||
COIS- Declaration of Competing Interest ... The authors declare the following financial | ||
OT - Massively parallel sequencing | ||
OT - Myotonic dystrophy type 1 | ||
OT - Repeat expansion disorders | ||
OT - Tandem repeats | ||
OT - Whole genome sequencing | ||
COIS- Declaration of competing interest The authors declare the following financial | ||
interests/personal relationships which may be considered as potential competing | ||
interests:Tomas Szemes reports a relationship with Genovisio Ltd. that includes: | ||
equity or stocks. If there are other authors, they declare that they have no | ||
|
@@ -114,13 +115,13 @@ CRDT- 2024/12/22 19:14 | |
PHST- 2024/12/05 00:00 [received] | ||
PHST- 2024/12/20 00:00 [revised] | ||
PHST- 2024/12/20 00:00 [accepted] | ||
PHST- 2024/12/23 00:19 [medline] | ||
PHST- 2024/12/23 00:19 [pubmed] | ||
PHST- 2024/12/23 00:19 [medline] | ||
PHST- 2024/12/22 19:14 [entrez] | ||
AID - S0890-8508(24)00057-4 [pii] | ||
AID - 10.1016/j.mcp.2024.102005 [doi] | ||
PST - aheadofprint | ||
SO - Mol Cell Probes. 2024 Dec 20:102005. doi: 10.1016/j.mcp.2024.102005. | ||
SO - Mol Cell Probes. 2024 Dec 29;79:102005. doi: 10.1016/j.mcp.2024.102005. | ||
|
||
PMID- 39679849 | ||
OWN - NLM | ||
|
@@ -7928,7 +7929,7 @@ PMID- 33235377 | |
OWN - NLM | ||
STAT- MEDLINE | ||
DCOM- 20220114 | ||
LR - 20241218 | ||
LR - 20241227 | ||
IS - 1476-5438 (Electronic) | ||
IS - 1018-4813 (Print) | ||
IS - 1018-4813 (Linking) | ||
|
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