Germline selection shapes human mitochondrial DNA diversity

W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman… - Science, 2019 - science.org
INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows
homoplasmic variation at> 1% frequency in humans. Migration patterns have contributed to …

Association between titin loss-of-function variants and early-onset atrial fibrillation

SH Choi, LC Weng, C Roselli, H Lin, CM Haggerty… - Jama, 2018 - jamanetwork.com
Importance Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the
population. Young individuals with AF have a strong genetic association with the disease …

Genetic correlates of phenotypic heterogeneity in autism

V Warrier, X Zhang, P Reed, A Havdahl, TM Moore… - Nature …, 2022 - nature.com
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic
etiology. To address this gap, here we investigated genetic differences between autistic …

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

G Ahlberg, L Refsgaard, PR Lundegaard… - Nature …, 2018 - nature.com
A family history of atrial fibrillation constitutes a substantial risk of develo** the disease,
however, the pathogenesis of this complex disease is poorly understood. We perform whole …

Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics

EE Blue, ARVR Horimoto, S Mukherjee… - Alzheimer's & …, 2019 - Elsevier
Introduction Although the relationship between APOE and Alzheimer's disease (AD) is well
established in populations of European descent, the effects of APOE and ancestry on AD …

Genetic map** for agronomic traits in a MAGIC population of common bean (Phaseolus vulgaris L.) under drought conditions

S Diaz, D Ariza-Suarez, P Izquierdo, JD Lobaton… - BMC genomics, 2020 - Springer
Background Common bean is an important staple crop in the tropics of Africa, Asia and the
Americas. Particularly smallholder farmers rely on bean as a source for calories, protein and …

Genomic analyses in African populations identify novel risk loci for cleft palate

A Butali, PA Mossey, WL Adeyemo… - Human molecular …, 2019 - academic.oup.com
Orofacial clefts are common developmental disorders that pose significant clinical,
economical and psychological problems. We conducted genome-wide association analyses …

A fully adjusted two‐stage procedure for rank‐normalization in genetic association studies

T Sofer, X Zheng, SM Gogarten, CA Laurie… - Genetic …, 2019 - Wiley Online Library
When testing genotype–phenotype associations using linear regression, departure of the
trait distribution from normality can impact both Type I error rate control and statistical power …

Genome-Wide Association Map** Uncovers Fw1, a Dominant Gene Conferring Resistance to Fusarium Wilt in Strawberry

DDA Pincot, TJ Poorten, MA Hardigan… - G3: Genes …, 2018 - academic.oup.com
Fusarium wilt, a soil-borne disease caused by the fungal pathogen Fusarium oxysporum f.
sp. fragariae, threatens strawberry (Fragaria× ananassa) production worldwide. The spread …

Unique genetic signatures of local adaptation over space and time for diapause, an ecologically relevant complex trait, in Drosophila melanogaster

PA Erickson, CA Weller, DY Song, AS Bangerter… - PLoS …, 2020 - journals.plos.org
Organisms living in seasonally variable environments utilize cues such as light and
temperature to induce plastic responses, enabling them to exploit favorable seasons and …