TY - JOUR

T1 - Interpreting Chromosomal Rearrangements in the Context of 3-Dimentional Genome Organization: A Practical Guide for Medical Genetics

AU - Fishman, V. S.

AU - Salnikov, P. A.

AU - Battulin, N. R.

N1 - This work was supported by the Russian Science Foundation (project No. 17-74-10143).

PY - 2018/4/1

Y1 - 2018/4/1

N2 - In this exciting era of “next-gen cytogenetics”, the use of novel molecular methods such as comparative genome hybridization and whole genome and whole exome sequencing becomes more and more common in clinics. This results in generation of large amounts of high-resolution patient-specific data and challenges the development of new approaches for interpretation of obtained information. Usually, interpretation of chromosomal rearrangements is focused on alterations of linear genome sequence, underestimating the role of spatial chromatin organization. In this article, we describe the main features of 3-dimentional genome organization, emphasizing their role in normal and pathological development. We highlight some tips to help physicians estimating the impact of chromosomal rearrangements on the patient phenotype. A separate section describes available tools that can be used to visualize and analyze human genome architecture.

AB - In this exciting era of “next-gen cytogenetics”, the use of novel molecular methods such as comparative genome hybridization and whole genome and whole exome sequencing becomes more and more common in clinics. This results in generation of large amounts of high-resolution patient-specific data and challenges the development of new approaches for interpretation of obtained information. Usually, interpretation of chromosomal rearrangements is focused on alterations of linear genome sequence, underestimating the role of spatial chromatin organization. In this article, we describe the main features of 3-dimentional genome organization, emphasizing their role in normal and pathological development. We highlight some tips to help physicians estimating the impact of chromosomal rearrangements on the patient phenotype. A separate section describes available tools that can be used to visualize and analyze human genome architecture.

KW - 3-dimensional nuclear architecture

KW - 3C

KW - chromosomal rearrangements

KW - Hi-C

KW - human congenital disorders

KW - TAD

UR - http://www.scopus.com/inward/record.url?scp=85045529290&partnerID=8YFLogxK

U2 - 10.1134/S0006297918040107

DO - 10.1134/S0006297918040107

M3 - Review article

C2 - 29626926

AN - SCOPUS:85045529290

VL - 83

SP - 393

EP - 401

JO - Biochemistry (Moscow)

JF - Biochemistry (Moscow)

SN - 0006-2979

IS - 4

ER -