Featured
-
-
Article
| 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
-
Article |
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
-
Article |
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
- Dario Ronchi
- , Manuela Garbellini
- & Giacomo Pietro Comi
-
Article
| Open AccessThe human genome harbours widespread exclusive yin yang haplotypes
- David Curtis
- & William Amos
-
Comment |
Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis
- Hiroyuki Ishiyama
- & Masafumi Ihara
-
Article
| Open AccessClinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
- Shona M. Kerr
- , Emma Cowan
- & Zosia Miedzybrodzka
-
Brief Communication |
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
- Qifei Li
- , Rohan Agrawal
- & Pankaj B. Agrawal
-
Article
| Open AccessFarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
- Ólavur Mortensen
- , Elisabet Thomsen
- & Noomi O. Gregersen
-
Article |
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy
- Francesco Mazzarotto
- , Alessia Argirò
- & Francesco Cappelli
-
-
Article |
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
-
Article |
Cross-continental admixture in the Kho population from northwest Pakistan
- Asifullah Khan
- , Leonardo Vallini
- & Shao-Qing Wen
-
Article |
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
- Le Guo
- , Bob P. H. Engelen
- & Mike Gerards
-
Article |
The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability
- Laura Pranckėnienė
- & Vaidutis Kučinskas
-
Article |
Allele frequency differentiation at height-associated SNPs among continental human populations
- Minhui Chen
- & Charleston W. K. Chiang
-
Article
| Open AccessThe genetic structure of Norway
- Morten Mattingsdal
- , S. Sunna Ebenesersdóttir
- & Eivind Hovig
-
Article |
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
-
Article |
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
-
Article
| Open AccessGenetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection
- Bilal Ashraf
- & Daniel John Lawson
-
Article
| 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
-
Article
| 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
-
Article |
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
-
Article
| Open AccessNatural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
- Beatrice Spedicati
- , Massimiliano Cocca
- & Giorgia Girotto
-
Article
| Open AccessLong-read trio sequencing of individuals with unsolved intellectual disability
- Marc Pauper
- , Erdi Kucuk
- & Christian Gilissen
-
Article
| Open AccessHigh-resolution population-specific recombination rates and their effect on phasing and genotype imputation
- Shabbeer Hassan
- , Ida Surakka
- & Samuli Ripatti
-
Article
| Open AccessSubdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain
- Gurdeep Matharu Lall
- , Maarten H. D. Larmuseau
- & Mark A. Jobling
-
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
-
Review Article
| Open AccessAn epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults
- Anthony P. Monaco
-
Article
| Open AccessDifferences in local population history at the finest level: the case of the Estonian population
- Vasili Pankratov
- , Francesco Montinaro
- & Mait Metspalu
-
Article |
Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia
- Jon Riddell
- , Chandana Basu Mallick
- & Denis J. Headon
-
Article |
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
-
Article
| 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
-
Article |
Genotype phasing in pedigrees using whole-genome sequence data
- August N. Blackburn
- , Lucy Blondell
- & Harald H. H. Göring
-
Article |
High-resolution inference of genetic relationships among Jewish populations
- Naama M. Kopelman
- , Lewi Stone
- & Noah A. Rosenberg
-
Article |
Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
- Einat Granot-Hershkovitz
- , Peitao Wu
- & Hagit Hochner
-
Article
| Open AccessThe paternal and maternal genetic history of Vietnamese populations
- Enrico Macholdt
- , Leonardo Arias
- & Mark Stoneking
-
Article
| Open AccessA bird’s-eye view of Italian genomic variation through whole-genome sequencing
- Massimiliano Cocca
- , Caterina Barbieri
- & Massimo Mezzavilla
-
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
-
Comment |
Sketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics
- George P. Patrinos
-
Article
| Open AccessCopy number variants in lipid metabolism genes are associated with gallstones disease in men
- Eduardo Pérez-Palma
- , Bernabé I. Bustos
- & Giancarlo V. De Ferrari
-
Article
| Open AccessEthnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants
- Sophie A. Riesmeijer
- , Paul M. N. Werker
- & Ilja M. Nolte
-
Article
| Open AccessFrequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe
- Jelena Petrović
- , Vesna Pešić
- & Volker M. Lauschke
-
Article |
Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor
- Reuven Sharony
- , Sandra Martins
- & Carlos R. Gordon
-
Article |
People from Ibiza: an unexpected isolate in the Western Mediterranean
- Simone Andrea Biagini
- , Neus Solé-Morata
- & Francesc Calafell
-
Article |
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data
- Carmen Lahuerta Pueyo
- , Miguel Ángel Aibar Arregui
- & Sebastián Menao Guillén
-
Viewpoint |
Diaspora, migration, and the sciences: a new integrated perspective
- Leonard Rutgers
- , Harry Ostrer
- & Hannes Schroeder
-
Article |
The role of matrilineality in shaping patterns of Y chromosome and mtDNA sequence variation in southwestern Angola
- Sandra Oliveira
- , Alexander Hübner
- & Jorge Rocha
-
Article |
Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile
- Lisanne L. Blauw
- , Raymond Noordam
- & Patrick C. N. Rensen
-
Article
| Open AccessThe radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests
- Florence Petit
- , Francesca Minnai
- & Caroline Costedoat