Literature DB >> 28296978

Correction: Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.

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Abstract

[This corrects the article DOI: 10.1371/journal.pone.0169935.].

Entities:  

Year:  2017        PMID: 28296978      PMCID: PMC5352023          DOI: 10.1371/journal.pone.0174190

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


The legend for Table 1 is incorrectly displayed in the third paragraph of the Results section. The publisher apologizes for the error.
Table 1

Breakpoint mapping and sequencing results for each apparently balanced translocation case included in this study.

Case / phenotypeTranslocation junction as estimated by MPSJunction lengthRead-pairsTranslocation breakpoint position as defined by SSDisrupted gene(s)Indels (+strand)Microho- mologyRepetitive elements
Family 1 –t(1;7)(p36.1;q22)
  Male with ID, psychomotor delay,epilepsychr1:18163342–18163563222bp12chr1:18163344–181633483bp-AGT del.TSINE-MIR-MIRb
chr7:99019714–99019855142bpchr7:99019710–99019714PTCD1 & ATP5J2-PTCD13bp-AGA del.CCLINE-L1-L1M5
  Non-affected motherchr1:18163366–1816343671bp17chr1:18163344–181633483bp-AGT del.TSINE-MIR-MIRb
chr7:99019342–99019746405bpchr7:99019710–99019714PTCD1 & ATP5J2-PTCD13bp-AGA del.CCLINE-L1-L1M5
Family 2 –t(7;8)(q32;q24.13)
  Female with IDchr7:122515289–122515690402bp17chr7:122515671–122515672CADPS2C
chr8:119865523–119866376854bpchr8:119866044–1198660505bp-GTAAA del.TAA
  Non-affected siblingchr7:122514386–1225157261341bp20chr7:122515671–122515672CADPS2C
chr8:119866031–11986608656bpchr8:119866044–1198660505bp-GTAAA del.TAA
Family 3 –t(4;10)(q35;q11.2)
  Female with mild to moderate IDchr4:189742584–189742790207bp15chr4:189742651–1897426564bp-ATCG del.TLINE-L2-L2a
chr10:43139092–43140045954bpchr10:43139266–431392725bp-CTGGC del.SINE-Alu-AluSc
  Non-affected siblingchr4:189742123–1897432251103bp26chr4:189742651–1897426564bp-ATCG del.TLINE-L2-L2a
chr10:43139186–43139369184bpchr10:43139266–431392725bp-CTGGC del.SINE-Alu-AluSc
  Non-affected motherchr4:189742483–189743387905bp25chr4:189742651–1897426564bp-ATCG del.TLINE-L2-L2a
chr10:43139065–431403591295bpchr10:43139266–431392725bp-CTGGC del.SINE-Alu-AluSc
Family 4 –t(1;20)(p35.3;q13.3)
  Male with Polysynda-ctyly, Oral Anomalieschr1:24738004–24738807804bp13chr1:24738180–24738181STPG1CSINE-Alu-AluJr4
chr20:56177192–56177656465bpchr20:56177612–561776132bp-GA dupl.
  Non-affected motherchr1:24738108–24738220113bp15chr1:24738180–24738181STPG1CSINE-Alu-AluJr4
chr20:56177454–56178424971bpchr20:56177612–561776132bp-GA dupl.

Translocation junction and exact breakpoint position as identified by Mate Pair Sequencing (MPS) and Sanger sequencing (SS), respectively, in the affected and non-affected translocation carriers in each family. The number of read-pairs representing each translocation junction, the gene(s) disrupted by each translocation breakpoint as well as insertions/deletions (indels), microhomology and repetitive elements found at the breakpoint sites are indicated. All genomic coordinates are based on the GRCh37/hg19 reference genome assembly. (ID = Intellectual Disability; mat = maternal; bp = base-pair; del. = deletion; dupl. = duplication).

The complete Table 1 legend is: Translocation junction and exact breakpoint position as identified by Mate Pair Sequencing (MPS) and Sanger sequencing (SS), respectively, in the affected and non-affected translocation carriers in each family. The number of read-pairs representing each translocation junction, the gene(s) disrupted by each translocation breakpoint as well as insertions/deletions (indels), microhomology and repetitive elements found at the breakpoint sites are indicated. All genomic coordinates are based on the GRCh37/hg19 reference genome assembly. (ID = Intellectual Disability; mat = maternal; bp = base-pair; del. = deletion; dupl. = duplication). Translocation junction and exact breakpoint position as identified by Mate Pair Sequencing (MPS) and Sanger sequencing (SS), respectively, in the affected and non-affected translocation carriers in each family. The number of read-pairs representing each translocation junction, the gene(s) disrupted by each translocation breakpoint as well as insertions/deletions (indels), microhomology and repetitive elements found at the breakpoint sites are indicated. All genomic coordinates are based on the GRCh37/hg19 reference genome assembly. (ID = Intellectual Disability; mat = maternal; bp = base-pair; del. = deletion; dupl. = duplication).
  1 in total

1.  Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.

Authors:  Constantia Aristidou; Costas Koufaris; Athina Theodosiou; Mads Bak; Mana M Mehrjouy; Farkhondeh Behjati; George Tanteles; Violetta Christophidou-Anastasiadou; Niels Tommerup; Carolina Sismani
Journal:  PLoS One       Date:  2017-01-10       Impact factor: 3.240

  1 in total

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