Genotyping and haplotyping articles from across Nature Portfolio

Genotyping and haplotyping are forms of genetic analysis that determine DNA sequence at sites of variation in a diploid (genotyping) or haploid (haplotyping) genomic complement. Haplotyping determines the specific combination of polymorphisms (sequence variants) along a chromosome that are inherited in blocks.

Latest Research and Reviews

Research
03 January 2023 | Open Access

CRISPR-based targeted haplotype-resolved assembly of a megabase region

Low-cost targeted approach to construct haplotype-resolved assemblies is needed to facilitate population genetic studies. Here, the authors demonstrate assembling high-quality MHC haplotypes with CRISPR-based enrichment and long-read sequencings.
- Taotao Li
- , Duo Du
- & Yun Liu
Nature Communications 14, 22
Research
12 July 2022 | Open Access

Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays

Rare tumour specific mutations in patient samples act as markers to monitor the course of disease. Here the authors report superRCA assays for rapid, highly specific detection of DNA sequence variants present at very low frequencies in DNA samples with flow cytometry readout; they use this on AML patients.
- Lei Chen
- , Anna Eriksson
- & Ulf Landegren
Nature Communications 13, 4033
Research
31 May 2022 | Open Access

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique
- Sachiko Wakita
- , Mari Hara
- & Ryotaro Hashizume
Journal of Human Genetics 67, 565-572
Research
13 January 2022 | Open Access

Forensic and genetic characterizations of diverse southern Thai populations based on 15 autosomal STRs
- Metawee Srikummool
- , Suparat Srithawong
- & Wibhu Kutanan
Scientific Reports 12, 655
Research
24 October 2021 | Open Access

PRIMA: a rapid and cost-effective genotyping method to detect single-nucleotide differences using probe-induced heteroduplexes
- Hiroyuki Kakui
- , Misako Yamazaki
- & Kentaro K. Shimizu
Scientific Reports 11, 20741
Research
08 October 2021 | Open Access

Genetic polymorphisms of BDNF on cognitive functions in drug-naive first episode patients with schizophrenia
- Xiuru Su
- , Limin Qiao
- & Xiangyang Zhang
Scientific Reports 11, 20057

All Research & Reviews

News and Comment

Research Highlights | 02 March 2021

The TOPMed genomic resource for human health

The TOPMed consortium report whole-genome sequencing data from 53,831 ethnically diverse participants. They describe the key features of the genetic variation and produce data resources for future medical research by the wider scientific community.
- Darren J. Burgess
Nature Reviews Genetics 22, 200
Research Highlights | 22 October 2018

UK Biobank — a new era in genomic medicine

Two studies in Nature describe the full data set of the UK Biobank resource, which contains genome-wide genetic data, clinical measurements and health records for ~500,000 individuals, and reveal insights into the brain’s genetic architecture.
- Orli G. Bahcall
Nature Reviews Genetics 19, 737
Research Highlights | 15 May 2017

Nucleic acid detection — it's elementary with SHERLOCK!
- Dorothy Clyde
Nature Reviews Genetics 18, 392-393
Editorial | 01 December 2015

Key mendelian variants

Nature Genetics 47, 1371
News & Views | 30 June 2015

Single nucleotide polymorphisms in mRCC—is their time up?

A large validation study on the effect of single nucleotide polymorphisms on outcome and adverse events in sunitinib-treated patients with metastatic renal cell carcinoma (mRCC) only confirmed that ABCB1 and CYP3A5 variants are associated with progression-free survival and dose reductions, respectively. Does this mean 'game over' for polymorphism research in mRCC?
- Benoit Beuselinck
- & Jessica Zucman-Rossi
Nature Reviews Urology 12, 424-426
Research Highlights | 25 November 2014

Short reads join hands

A transposase can link sequence fragments together for accurate haplotyping and genome assembly.
- Tal Nawy
Nature Methods 11, 1198

All News & Comment

Genotyping and haplotyping articles from across Nature Portfolio

Latest Research and Reviews

CRISPR-based targeted haplotype-resolved assembly of a megabase region

Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

Forensic and genetic characterizations of diverse southern Thai populations based on 15 autosomal STRs

PRIMA: a rapid and cost-effective genotyping method to detect single-nucleotide differences using probe-induced heteroduplexes

Genetic polymorphisms of BDNF on cognitive functions in drug-naive first episode patients with schizophrenia

News and Comment

The TOPMed genomic resource for human health

UK Biobank — a new era in genomic medicine

Nucleic acid detection — it's elementary with SHERLOCK!

Key mendelian variants

Single nucleotide polymorphisms in mRCC—is their time up?

Short reads join hands

Search

Quick links