Evidence map›Paper›PMID 34302168›Full record

ReviewHuman molecular genetics2021

Expanding studies of chromosome structure and function in the era of T2T genomics.

Karen H Miga, Beth A Sullivan

Abstract readReview
In one paragraph

Review in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Genomic origin ofHorticulture research · 2025
    Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Karen H MigaUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Beth A SullivanDepartment of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.ORCID 0000-0001-5216-4603

Funding

Genomic Analysis of Centromere Assembly and FunctionR01GM124041 · NIGMS · DUKE UNIVERSITY · PI SULLIVAN, BETH A · 2017 to 2025
$2.8M
DETECTING SUBTLE SIGNALS IN GENOMIC SEQUENCER01HG001257 · NHGRI · WADSWORTH CENTER · PI LAWRENCE, CHARLES E · 1995 to 2004
$1.7M
Centromere Function and Dicentric Chromosome StabilityR01GM129263 · NIGMS · DUKE UNIVERSITY · PI SULLIVAN, BETH A · 2019 to 2022
$1.3M
IMPROVING THROUGHPUT OF LONG READS WITH HIGH CONSENSUS BASE ACCURACY TO RESOLVE REPETITIVE DNASR21HG010548 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI MIGA, KAREN HAYDEN · 2019 to 2020
$612k
Ectopic centromere assembly in humansR21CA238758 · NCI · DUKE UNIVERSITY · PI SULLIVAN, BETH A · 2020 to 2021
$404k
NCI NIH HHS R21 CA238758NHGRI NIH HHS R01 HG001257NHGRI NIH HHS R21 HG010548NIGMS NIH HHS R01 GM124041NIGMS NIH HHS R01 GM129263
6 · The paper itself

Abstract

The recent accomplishment of a truly complete human genome has afforded a new view of chromosome structure and function that was limited 30 years ago. Here, we discuss the expansion of knowledge from the early cytological studies of the genome to the current high-resolution genomic, epigenetic and functional maps that have been achieved by recent technology and computational advances. These studies have revealed unexpected complexities of genome organization and function and uncovered new views of fundamental chromosomal elements. Comprehensive genomic maps will enable accurate diagnosis of human diseases caused by altered chromosome structure and function, facilitate development of chromosome-based therapies and shape the future of preventative medicine and healthcare.

Indexed as

Chromosome StructuresGenome, HumanGenomicsAnimalsChromosome MappingChromosomesComputational BiologyGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHumansInheritance PatternsSingle-Cell AnalysisGenetic Markers

Identifiers

PMID34302168
PMCPMC8631062

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.