Rare variants articles from across Nature Portfolio

Rare variants are alternative forms of a gene that are present with a minor allele frequency (MAF) of less than 1%.

Latest Research and Reviews

Research
16 March 2023 | Open Access

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
- Shona M. Kerr
- , Emma Cowan
- & Zosia Miedzybrodzka
European Journal of Human Genetics, 1-8
Research | 08 February 2023

Polygenic architecture of rare coding variation across 394,783 exomes

An analysis of rare coding variants across 22 common traits and diseases indicates that these variants will contribute substantially to biological insights but modestly to population risk stratification.
- Daniel J. Weiner
- , Ajay Nadig
- & Luke J. O’Connor
Nature 614, 492-499
Research | 23 January 2023

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
- Qifei Li
- , Rohan Agrawal
- & Pankaj B. Agrawal
European Journal of Human Genetics, 1-4
Research
18 January 2023 | Open Access

FinnGen provides genetic insights from a well-phenotyped isolated population

Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.
- Mitja I. Kurki
- , Juha Karjalainen
- & Aarno Palotie
Nature 613, 508-518
Research
16 December 2022 | Open Access

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis
- Prajna Udupa
- , Debasish Kumar Ghosh
- & Gandham SriLakshmi Bhavani
Journal of Human Genetics 68, 287-290
Research | 13 December 2022

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
- Masamune Sakamoto
- , Toshihide Shiiki
- & Naomichi Matsumoto
Journal of Human Genetics 68, 247-253

All Research & Reviews

News and Comment

Research Highlights | 12 December 2022

CHIPping away at the genetic aetiology of clonal haematopoiesis

A study in Nature reports the identification of new germline variants associated with particular subtypes of clonal haematopoiesis of indeterminate potential (CHIP) and their links to different health outcomes.
- Kirsty Minton
Nature Reviews Genetics 24, 69
Research Highlights | 24 May 2022

Novel TLR7 variant causes lupus

New research has identified a novel, de novo mutation in the TLR7 gene that increases the affinity of TLR7 for guanosine, leading to TLR7 overactivation and child-onset systemic lupus erthematosus.
- Michael Attwaters
Nature Reviews Rheumatology 18, 365
Correspondence
13 September 2021 | Open Access

TMEM151A variants cause paroxysmal kinesigenic dyskinesia
- Hong-Fu Li
- , Yu-Lan Chen
- & Zhi-Ying Wu
Cell Discovery 7, 83
Research Highlights | 30 March 2021

Stem cells root out genetic variants

Two studies co-published in Nature Genetics describe induced pluripotent stem cell-based resources for identifying novel, disease-related genetic variants.
- Joseph Willson
Nature Reviews Genetics 22, 265
Research Highlights | 20 March 2020

Deciphering the impact of enhancer variation

A study in Cell describes a novel, highly scalable CRISPR–Cas9-based assay and its use in assessing the role of enhancer mutations in mammalian limb development.
- Joseph Willson
Nature Reviews Genetics 21, 274-275
Research Highlights | 16 March 2020

Xhosa schizophrenia genetics
- Jamie Horder
Nature Human Behaviour 4, 237