Featured
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“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
- Ella Adi-Wauran
- , Marc Clausen
- & Yvonne Bombard
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Article
| Open Access
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease
- Kristjan Norland
- , Daniel J. Schaid
- & Iftikhar J. Kullo
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Article
| Open Access
Genetic prediction of male pattern baldness based on large independent datasets
- Yan Chen
- , Pirro Hysi
- & Manfred Kayser
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Comment
| Open AccessGenetic discrimination still casts a large shadow in 2022
- Yann Joly
- & Gratien Dalpe
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Article
| Open Access
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
- Eileen O. Dareng
- , Jonathan P. Tyrer
- & Paul D. P. Pharoah
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| Open Access
The genetic structure of Norway
- Morten Mattingsdal
- , S. Sunna Ebenesersdóttir
- & Eivind Hovig
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| Open Access
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain
- Gurdeep Matharu Lall
- , Maarten H. D. Larmuseau
- & Mark A. Jobling
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| Open Access
Genetic modifiers in rare disorders: the case of fragile X syndrome
- Hayley Crawford
- , Gaia Scerif
- & Joseph McCleery
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Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans
- Andrey Ziyatdinov
- , Margaret M. Parker
- & Hugues Aschard
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Global, pathway and gene coverage of three Illumina arrays with respect to inflammatory and immune-related pathways
- Viola Tozzi
- , Albert Rosenberger
- & Heike Bickeböller
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting
- Kriti D. Khandelwal
- , Marie-José H. van den Boogaard
- & Hans van Bokhoven
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Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals
- Richard Border
- , Andrew Smolen
- & Luke M. Evans
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A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees
- Sofie Claerhout
- , Michiel Van der Haegen
- & Ronny Decorte
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The role of matrilineality in shaping patterns of Y chromosome and mtDNA sequence variation in southwestern Angola
- Sandra Oliveira
- , Alexander Hübner
- & Jorge Rocha
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Inferring biogeographic ancestry with compound markers of slow and fast evolving polymorphisms
- Amandine Moriot
- , Carla Santos
- & Diana Hall
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Mitochondrial genomes uncover the maternal history of the Pamir populations
- Min-Sheng Peng
- , Weifang Xu
- & Ya-Ping Zhang
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| Open Access
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
- Mario Mitt
- , Mart Kals
- & Priit Palta
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| Open Access
A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effects
- Jianping Sun
- , Karim Oualkacha
- & Celia MT Greenwood
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Short Report |
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
- João Fadista
- , Alisa K Manning
- & Leif Groop
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A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set
- Hadassa C Santos
- , Andréa V R Horimoto
- & Alexandre C Pereira
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Letter |
On the use of Chinese population as a proxy of Amerindian ancestors in genetic admixture studies with Latin American populations
- Ronald R de Moura
- , Valdir de Queiroz Balbino
- & Lucas A C Brandão
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The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population
- Amke Caliebe
- , Melanie Harder
- & Nicole von Wurmb-Schwark
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Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests
- Emmanuelle Kieffer
- , Jean-Christophe Nicod
- & Céline Moutou
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Heritability of liver enzyme levels estimated from genome-wide SNP data
- Jenny H D A van Beek
- , Gitta H Lubke
- & Dorret I Boomsma
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Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups
- Haiyi Lou
- , Shilin Li
- & Shuhua Xu
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Short Report |
The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length
- Fabio Concetti
- , Francesco M Carpi
- & Valerio Napolioni
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Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol
- Qian S Zhang
- , Brian L Browning
- & Sharon R Browning
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| Open Access
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
- Laura M Huckins
- , Vesna Boraska
- & Ioanna Tachmazidou
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Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers
- Nathália C Campanella
- , Gustavo N Berardinelli
- & Rui M Reis
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Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31
- Kyunglan Kim
- , Dong Won Heo
- & Changwon Kang
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A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese
- Pengfei Qin
- , Zhiqiang Li
- & Shuhua Xu
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Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients
- Giovanni Corso
- , Valeria Pascale
- & Franco Roviello
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Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers
- Luba M Pardo
- , Giovanna Piras
- & Peter Heutink
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Short Report |
Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations
- Fang Chen
- , Daniel O Stram
- & Christopher A Haiman
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Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data
- Concetta Burgarella
- & Miguel Navascués
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Short Report |
Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant
- Maurice P Zeegers
- , Humera S Khan
- & Harry Ostrer
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A new set of markers for human identification based on 32 polymorphic Alu insertions
- Ilgar Z Mamedov
- , Irina A Shagina
- & Yury B Lebedev
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Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
- Roxann G Ingersoll
- , Jacqueline Hetmanski
- & Terri H Beaty
Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections