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| Open AccessInvestigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
- Emilie M. Wigdor
- , Kaitlin E. Samocha
- & Hilary C. Martin
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| Open AccessMitochondrial variants of complex I genes associated with leprosy clinical subtypes
- Felipe Gouvea de Souza
- , Caio S. Silva
- & Giovanna C. Cavalcante
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| Open AccessIdentification of unique genomic signatures in patients with fibromyalgia and chronic pain
- Gayatry Mohapatra
- , Fabien Dachet
- & Frederick G. Behm
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| Open AccessA cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study)
- A. Di Pilla
- , C. Nero
- & G. Scambia
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| Open AccessSHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
- Daniel Backenroth
- , Gheona Altarescu
- & David A. Zeevi
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| Open AccessEvaluating genomic signatures of aging in brain tissue as it relates to Alzheimer’s disease
- Megan T. Lynch
- , Margaret A. Taub
- & Rasika A. Mathias
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| Open AccessSnoring-related polygenic risk and its relationship with lifestyle factors in a Korean population: KoGES study
- Borim Ryu
- , Sejoon Lee
- & Jeong-Whun Kim
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| Open AccessEffect of tissue-grouped regulatory variants associated to type 2 diabetes in related secondary outcomes
- Daiane Hemerich
- , Roelof A. J. Smit
- & Vinicius Tragante
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| Open AccessInvestigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation
- Elif Everest
- , Mohammad Ahangari
- & Eda Tahir Turanli
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| Open AccessApproaches to long-read sequencing in a clinical setting to improve diagnostic rate
- Erica Sanford Kobayashi
- , Serge Batalov
- & Matthew N. Bainbridge
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| Open AccessEnrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia
- Suvi P. M. Douglas
- , Atte K. Lahtinen
- & Outi Kilpivaara
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| Open AccessUnderstanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2
- Raghad Aljarf
- , Mengyuan Shen
- & David B. Ascher
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| Open AccessClinical exome sequencing for inherited retinal degenerations at a tertiary care center
- Mythily Ganapathi
- , Amanda Thomas-Wilson
- & Vaidehi Jobanputra
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| Open AccessNeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system
- Kyle W. Davis
- , Colleen G. Bilancia
- & Moises A. Serrano
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| Open AccessLocal genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction
- Koldo Garcia-Etxebarria
- , Olga Merino
- & Mauro D’Amato
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| Open AccessPrioritization of putatively detrimental variants in euploid miscarriages
- Silvia Buonaiuto
- , Immacolata Di Biase
- & Vincenza Colonna
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| Open AccessInsights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations
- Karoline Kuchenbaecker
- , Arthur Gilly
- & Eleftheria Zeggini
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| Open AccessEight-year longitudinal study of whole blood gene expression profiles in individuals undergoing long-term medical follow-up
- Yoshio Sakai
- , Alessandro Nasti
- & Shuichi Kaneko
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| Open AccessLung adenocarcinoma and lung squamous cell carcinoma cancer classification, biomarker identification, and gene expression analysis using overlapping feature selection methods
- Joe W. Chen
- & Joseph Dhahbi
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| Open AccessMutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
- Julie E. Horowitz
- , Neil Warner
- & Claudia Gonzaga-Jauregui
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| Open AccessIdentification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes
- Sang Jin Kim
- , Kemal Sonmez
- & Cristina Montero-Mendoza
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| Open AccessTwo genetic variants explain the association of European ancestry with multiple sclerosis risk in African-Americans
- Nathan Nakatsuka
- , Nick Patterson
- & David Reich
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| Open AccessThe complete chloroplast genome of Gleditsia sinensis and Gleditsia japonica: genome organization, comparative analysis, and development of taxon specific DNA mini-barcodes
- Wei Tan
- , Han Gao
- & Xiaoxuan Tian
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| Open AccessRapid repair of human disease-specific single-nucleotide variants by One-SHOT genome editing
- Yuji Yokouchi
- , Shinichi Suzuki
- & Takumi Era
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| Open AccessSibling validation of polygenic risk scores and complex trait prediction
- Louis Lello
- , Timothy G. Raben
- & Stephen D. H. Hsu
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| Open AccessTranslating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
- Benedikt von der Heyde
- , Anastasia Emmanouilidou
- & Marcel den Hoed
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| Open AccessExtraction of Cell-free Dna from An Embryo-culture Medium Using Micro-scale Bio-reagents on Ewod
- Anand Baby Alias
- , Cheng-En Chiang
- & Da-Jeng Yao
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| Open AccessFine-tuning of Genome-Wide Polygenic Risk Scores and Prediction of Gestational Diabetes in South Asian Women
- Amel Lamri
- , Shihong Mao
- & Sonia S. Anand
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| Open AccessMulti-omic signatures identify pan-cancer classes of tumors beyond tissue of origin
- Agustín González-Reymúndez
- & Ana I. Vázquez
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| Open AccessA prolonged multispecies outbreak of IMP-6 carbapenemase-producing Enterobacterales due to horizontal transmission of the IncN plasmid
- Takuya Yamagishi
- , Mari Matsui
- & Kazunori Oishi
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| Open AccessSystematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
- Yury A. Barbitoff
- , Dmitrii E. Polev
- & Alexander V. Predeus
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| Open AccessAssisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST
- R. M. Buckley
- , R. A. Grahn
- & L. A. Lyons
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| Open AccessDe novo Assembly of the Brugia malayi Genome Using Long Reads from a Single MinION Flowcell
- Joseph R. Fauver
- , John Martin
- & Peter U. Fischer
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| Open AccessComorbidity of asthma and hypertension may be mediated by shared genetic dysregulation and drug side effects
- Olga Zolotareva
- , Olga V. Saik
- & Ralf Hofestädt
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| Open AccessWhole mitochondrial genome sequencing highlights mitochondrial impact in gastric cancer
- Giovanna Chaves Cavalcante
- , Anderson N. R. Marinho
- & Ândrea Ribeiro-dos-Santos
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| Open AccessCharacterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
- Miroslav P. Milev
- , Daniela Stanga
- & Cecilia Jimenez-Mallebrera
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| Open AccessThe TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids
- Sebastian Prill
- , Andrea Caddeo
- & Stefano Romeo
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| Open AccessANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure
- Adam Jarmula
- , Anna Łusakowska
- & Maria Jolanta Redowicz
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| Open AccessHigh prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer
- Seung Eun Lee
- , Hye Seung Lee
- & Wan-Seop Kim
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| Open AccessComparison of Four Complete Chloroplast Genomes of Medicinal and Ornamental Meconopsis Species: Genome Organization and Species Discrimination
- Xiaoxue Li
- , Wei Tan
- & Yong Wang
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| Open AccessExome sequencing in patients with chronic central serous chorioretinopathy
- Rosa L. Schellevis
- , Myrte B. Breukink
- & Anneke I. den Hollander
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| Open AccessGenetic overlap between birthweight and adult cardiometabolic diseases has implications for genomic medicine
- Fasil Tekola-Ayele
- , Anthony Lee
- & Marion Ouidir
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| Open AccessComparative analysis of whole-genome sequencing pipelines to minimize false negative findings
- Kyu-Baek Hwang
- , In-Hee Lee
- & Sek Won Kong
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| Open AccessThe central exons of the human MUC2 and MUC6 mucins are highly repetitive and variable in sequence between individuals
- Frida Svensson
- , Tiange Lang
- & Gunnar C. Hansson
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| Open AccessIn Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function
- A. Eliot Shearer
- , Viral D. Tejani
- & Richard J. H. Smith
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| Open AccessConcurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism
- Eunkuk Park
- , Jaehoon Jung
- & Sihoon Lee
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| Open AccessFurther evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
- Hongyang Wang
- , Jing Guan
- & Qiuju Wang
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| Open AccessCopy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy
- Cameron J. Lacey
- , Kit Doudney
- & Martin A. Kennedy
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| Open AccessAn epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Annika Thomer
- , Maren Gottschalk
- & Julia Metzger