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| Open AccessEvidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
- Lea Urpa
- , Mitja I. Kurki
- & Mark J. Daly
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Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus
- Fedor S. Sharko
- , Eugenia S. Boulygina
- & Artem V. Nedoluzhko
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| Open AccessRecord-matching of STR profiles with fragmentary genomic SNP data
- Jaehee Kim
- & Noah A. Rosenberg
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| Open AccessThe human genome harbours widespread exclusive yin yang haplotypes
- David Curtis
- & William Amos
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| Open AccessDeciphering the genetic structure of the Quebec founder population using genealogies
- Laurence Gagnon
- , Claudia Moreau
- & Simon L. Girard
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| Open AccessClinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
- Shona M. Kerr
- , Emma Cowan
- & Zosia Miedzybrodzka
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| Open AccessFarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
- Ólavur Mortensen
- , Elisabet Thomsen
- & Noomi O. Gregersen
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Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy
- Francesco Mazzarotto
- , Alessia Argirò
- & Francesco Cappelli
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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
- Ananthapadmanabha Kotambail
- , Pavalan Selvam
- & Gautham Arunachal
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Brief Communication
| Open AccessAssessing the digenic model in rare disorders using population sequencing data
- Nerea Moreno-Ruiz
- , J. C. Ambrose
- & Ferran Casals
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Review Article |
The genetic and evolutionary determinants of COVID-19 susceptibility
- Gaspard Kerner
- & Lluis Quintana-Murci
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Comment
| Open AccessEthically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients
- Lisa Dive
- & Ainsley J. Newson
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Cross-continental admixture in the Kho population from northwest Pakistan
- Asifullah Khan
- , Leonardo Vallini
- & Shao-Qing Wen
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The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability
- Laura Pranckėnienė
- & Vaidutis Kučinskas
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Allele frequency differentiation at height-associated SNPs among continental human populations
- Minhui Chen
- & Charleston W. K. Chiang
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| Open AccessContribution of common risk variants to multiple sclerosis in Orkney and Shetland
- Catriona L. K. Barnes
- , Caroline Hayward
- & James F. Wilson
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| Open AccessThe genetic structure of Norway
- Morten Mattingsdal
- , S. Sunna Ebenesersdóttir
- & Eivind Hovig
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Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
- Anne-Mai Ilumäe
- , Helen Post
- & Richard Villems
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Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
- André S. Bueno
- , Kelly Nunes
- & Regina C. Mingroni-Netto
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| Open AccessGenetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection
- Bilal Ashraf
- & Daniel John Lawson
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| Open AccessFine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data
- Iago Maceda
- , Miguel Martín Álvarez
- & Oscar Lao
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| Open AccessUnraveling a fine-scale high genetic heterogeneity and recent continental connections of an Arabian Peninsula population
- Muthukrishnan Eaaswarkhanth
- , Ajai K. Pathak
- & Thangavel Alphonse Thanaraj
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Analysis of HLA gene polymorphisms in East Africans reveals evidence of gene flow in two Semitic populations from Sudan
- Waleed Aamer
- , Hisham Y. Hassan
- & Ituro Inoue
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Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population
- Daniel E. Platt
- , Hovig Artinian
- & Pierre Zalloua
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| Open AccessHigh-resolution population-specific recombination rates and their effect on phasing and genotype imputation
- Shabbeer Hassan
- , Ida Surakka
- & Samuli Ripatti
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| Open AccessSubdividing 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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Estimation of the number of people with Down syndrome in Europe
- Gert de Graaf
- , Frank Buckley
- & Brian G. Skotko
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Brief Communication |
Dissecting the paternal founders of Mundari (Austroasiatic) speakers associated with the language dispersal in South Asia
- Prajjval Pratap Singh
- , Shani Vishwakarma
- & Gyaneshwer Chaubey
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Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis
- Simon Haworth
- , Pik Fang Kho
- & Gabriel Cuellar-Partida
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Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians
- Agnès E. Sjöstrand
- , Per Sjödin
- & Mattias Jakobsson
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Review Article
| Open AccessAn epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults
- Anthony P. Monaco
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Article
| Open AccessDifferences in local population history at the finest level: the case of the Estonian population
- Vasili Pankratov
- , Francesco Montinaro
- & Mait Metspalu
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Article
| Open AccessCultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand
- Wibhu Kutanan
- , Rasmi Shoocongdej
- & Mark Stoneking
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Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet
- Ninna Senftleber
- , Marit Eika Jørgensen
- & Anders Albrechtsen
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Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia
- Jon Riddell
- , Chandana Basu Mallick
- & Denis J. Headon
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Inferring the population history of Tai-Kadai-speaking people and southernmost Han Chinese on Hainan Island by genome-wide array genotyping
- Guanglin He
- , Zheng Wang
- & Yiping Hou
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| Open AccessAlternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke
- Joanna von Berg
- , Sander W. van der Laan
- & Sara L. Pulit
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Genotype phasing in pedigrees using whole-genome sequence data
- August N. Blackburn
- , Lucy Blondell
- & Harald H. H. Göring
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High-resolution inference of genetic relationships among Jewish populations
- Naama M. Kopelman
- , Lewi Stone
- & Noah A. Rosenberg
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Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
- Einat Granot-Hershkovitz
- , Peitao Wu
- & Hagit Hochner
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| Open AccessThe paternal and maternal genetic history of Vietnamese populations
- Enrico Macholdt
- , Leonardo Arias
- & Mark Stoneking
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Article
| Open AccessA bird’s-eye view of Italian genomic variation through whole-genome sequencing
- Massimiliano Cocca
- , Caterina Barbieri
- & Massimo Mezzavilla
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Brief Communication
| Open AccessFunctional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population
- Saori Sakaue
- , Masato Akiyama
- & Yukinori Okada
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| Open AccessThe Dutch Y-chromosomal landscape
- Eveline Altena
- , Risha Smeding
- & Peter de Knijff
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Sketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics
- George P. Patrinos