Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries

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Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries. / Mozheiko, E. A.; Fishman, V. S.

In: Russian Journal of Genetics, Vol. 55, No. 10, 01.10.2019, p. 1273-1281.

Research output: Contribution to journal › Article › peer-review

BibTeX

@article{8312520a72384491b270f09c93bd2777,

title = "Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries",

abstract = "Abstract: The diagnosis and treatment of patients with hereditary diseases require the creation of efficient methods for the study of individual genomes. The existing approaches either are aimed at searching for a narrow set of genomic variants or are too expensive to use in routine practice. We studied the possibility of detection point mutations and interchromosomal translocations using sequencing of enriched 3C libraries. We demonstrated that enriched 3C libraries are more informative from the point of view of detecting the variants in exons than whole genome libraries, but are inferior to whole exome data. At the same time, translocations significantly change the profile of the chromatin spatial contacts, which makes it possible to detect efficiently such rearrangements when analyzing enriched 3C libraries.",

keywords = "3C, exome, genome sequencing, genomic diagnostics, three-dimensional chromatin organization, MAP, GENOME, PRINCIPLES",

author = "Mozheiko, {E. A.} and Fishman, {V. S.}",

year = "2019",

month = oct,

day = "1",

doi = "10.1134/S1022795419100089",

language = "English",

volume = "55",

pages = "1273--1281",

journal = "Russian Journal of Genetics",

issn = "1022-7954",

publisher = "PLEIADES PUBLISHING INC",

number = "10",

}

RIS

TY - JOUR

T1 - Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries

AU - Mozheiko, E. A.

AU - Fishman, V. S.

PY - 2019/10/1

Y1 - 2019/10/1

N2 - Abstract: The diagnosis and treatment of patients with hereditary diseases require the creation of efficient methods for the study of individual genomes. The existing approaches either are aimed at searching for a narrow set of genomic variants or are too expensive to use in routine practice. We studied the possibility of detection point mutations and interchromosomal translocations using sequencing of enriched 3C libraries. We demonstrated that enriched 3C libraries are more informative from the point of view of detecting the variants in exons than whole genome libraries, but are inferior to whole exome data. At the same time, translocations significantly change the profile of the chromatin spatial contacts, which makes it possible to detect efficiently such rearrangements when analyzing enriched 3C libraries.

AB - Abstract: The diagnosis and treatment of patients with hereditary diseases require the creation of efficient methods for the study of individual genomes. The existing approaches either are aimed at searching for a narrow set of genomic variants or are too expensive to use in routine practice. We studied the possibility of detection point mutations and interchromosomal translocations using sequencing of enriched 3C libraries. We demonstrated that enriched 3C libraries are more informative from the point of view of detecting the variants in exons than whole genome libraries, but are inferior to whole exome data. At the same time, translocations significantly change the profile of the chromatin spatial contacts, which makes it possible to detect efficiently such rearrangements when analyzing enriched 3C libraries.

KW - 3C

KW - exome

KW - genome sequencing

KW - genomic diagnostics

KW - three-dimensional chromatin organization

KW - MAP

KW - GENOME

KW - PRINCIPLES

UR - http://www.scopus.com/inward/record.url?scp=85074146717&partnerID=8YFLogxK

U2 - 10.1134/S1022795419100089

DO - 10.1134/S1022795419100089

M3 - Article

AN - SCOPUS:85074146717

VL - 55

SP - 1273

EP - 1281

JO - Russian Journal of Genetics

JF - Russian Journal of Genetics

SN - 1022-7954

IS - 10

ER -

ID: 21997913