The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes

Authors: Mahmoud Amiri Roudbar, Seyed Milad Vahedi, Jin Jin, Mina Jahangiri, Hossein Lanjanian, Danial Habibi, Sajedeh Masjoudi, Parisa Riahi, Sahand Tehrani Fateh, Farideh Neshati, Asiyeh Sadat Zahedi, Maryam Moazzam-Jazi, Leila Najd-Hassan-Bonab, Seyedeh Fatemeh Mousavi, Sara Asgarian, Maryam Zarkesh, Mohammad Reza Moghaddas, Albert Tenesa, Anoshirvan Kazemnejad, Hassan Vahidnezhad, Hakon Hakonarson, Fereidoun Azizi, Mehdi Hedayati, Maryam Sadat Daneshpour, Mahdi Akbarzadeh

Source: Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)

Subject Terms: Genome-wide association studies (GWAS), Heritability, Estimated risk values (ERV), Type 2 diabetes, Missing heritability, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/d1778760f30742c2868c53ce140b1d16

Improved polygenic risk prediction in migraine-first patients

Authors: Dora Torok, Peter Petschner, Daniel Baksa, Gabriella Juhasz

Source: The Journal of Headache and Pain, Vol 25, Iss 1, Pp 1-5 (2024)

Subject Terms: Migraine, Genetics, Missing heritability, Disease onset, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1129-2377

Access URL: https://doaj.org/article/a829a36a13944876be3ed9846c20b5d4

Editorial: Insights in clinical research in nephrology

Authors: Michele Provenzano, Greta Borelli, Markus Pirklbauer, Gert Mayer

Source: Frontiers in Nephrology, Vol 4 (2024)

Subject Terms: chronic kidney disease, prevention, missing heritability, advancing age, sodium intake, SIRI index, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneph.2024.1441190/full; https://doaj.org/toc/2813-0626

Access URL: https://doaj.org/article/e881f4ab5ddd4edd804b0b91337e31dc

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Authors: Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll

Source: Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)

Subject Terms: basal cell nevus syndrome, Gorlin syndrome, whole-exome sequencing, multiplex ligation-dependent probe amplification, missing heritability, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/7/336; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

Access URL: https://doaj.org/article/f0a534224e3742919de313dd11bcbc53

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Authors: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

Source: HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)

Subject Terms: ABCA4, ABCA4-associated retinopathies, missing heritability, smMIPs sequencing, deep-intronic variants, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000696; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f

Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow

Authors: Olga S. Chumakova, Natalia M. Baulina

Source: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

Subject Terms: hypertrophic cardiomyopathy, genetics, diagnosis, missing heritability, NGS, HCM-associated variants, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1236539/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/a28f177f5bdb420fa598e360e66a96d1

Phenotypic but no genetic adaptation in zooplankton 24 years after an abrupt +10°C climate change

Authors: Antónia Juliana Pais‐Costa, Eva J. P. Lievens, Stella Redón, Marta I. Sánchez, Roula Jabbour‐Zahab, Pauline Joncour, Nguyen Van Hoa, Gilbert Van Stappen, Thomas Lenormand

Source: Evolution Letters, Vol 6, Iss 4, Pp 284-294 (2022)

Subject Terms: Additive genetic effect, climate change, microbiota, missing heritability, plasticity, resurrection ecology, Evolution, QH359-425

File Description: electronic resource

Relation: https://doaj.org/toc/2056-3744

Access URL: https://doaj.org/article/1d25788520234d4394dd007b65333e80

Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder

Authors: David Kainer, Alan R. Templeton, Erica T. Prates, Daniel Jacboson, Euan R.O. Allan, Sharlee Climer, Michael R. Garvin

Source: HGG Advances, Vol 4, Iss 1, Pp 100150- (2023)

Subject Terms: Genomic structural variation, missing heritability, autism spectrum disorder, Mendelian inheritance, artificial intelligence, precision medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000677; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/a0dba97601ab44de9f8716863efa1c52

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

Authors: Mariana Saint Just Ribeiro, Pulak Tripathi, Bahram Namjou, John B. Harley, Iouri Chepelev

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: gene regulation, enhancer, enhancer-like promoter, genetic interaction, missing heritability, BLK, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1008582/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/dd041971c2394d2ab5f83d0c3eb48caa

Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability

Authors: Xi Long, Hong Xue

Source: Human Genomics, Vol 15, Iss 1, Pp 1-23 (2021)

Subject Terms: Frequency independent, Genetic diversity, Missing heritability, Retrotransposon, Recombination-selection co-saturation, Replication timing, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/8e9612b3e0604b9ab316372262781b09

A Novel Mapping Strategy Utilizing Mouse Chromosome Substitution Strains Identifies Multiple Epistatic Interactions That Regulate Complex Traits

Authors: Anna K. Miller, Anlu Chen, Jacquelaine Bartlett, Li Wang, Scott M. Williams, David A. Buchner

Source: G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4553-4563 (2020)

Subject Terms: qtl, complex trait, missing heritability, genetic architecture, epistasis, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2160-1836

Access URL: https://doaj.org/article/16fec3dc123c4c0c80c86f1a98bfecc8

Extending the Genotype in Brachypodium by Including DNA Methylation Reveals a Joint Contribution with Genetics on Adaptive Traits

Authors: Steven R. Eichten, Akanksha Srivastava, Adam J. Reddiex, Diep R. Ganguly, Alison Heussler, Jared C. Streich, Pip B. Wilson, Justin O. Borevitz

Source: G3: Genes, Genomes, Genetics, Vol 10, Iss 5, Pp 1629-1637 (2020)

Subject Terms: brachypodium, epigenomics, missing heritability, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2160-1836

Access URL: https://doaj.org/article/885c6594c1ff4a609a69dde10947828c

Why We Need to Take a Closer Look at Genetic Contributions to CYP3A Activity

Authors: Qinglian Zhai, Maaike van der Lee, Teun van Gelder, Jesse J. Swen

Source: Frontiers in Pharmacology, Vol 13 (2022)

Subject Terms: CYP3A locus, CYP3A4, CYP3A5, genetic variants, enzyme activity, missing heritability, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.912618/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/095cfae0737147a89d788acdd098a335

SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits

Authors: Richard F. Oppong, Thibaud Boutin, Archie Campbell, Andrew M. McIntosh, David Porteous, Caroline Hayward, Chris S. Haley, Pau Navarro, Sara Knott

Source: Frontiers in Genetics, Vol 12 (2022)

Subject Terms: MDD, height, haplotypes, regional heritability mapping, missing heritability, rare variation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.791712/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/ba92001eee6442d5abfb1c58ba43cc1a

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Authors: Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: ATM, deep intronic variant, synonymous variant, whole-genome sequencing, splicing, missing heritability, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.815210/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0da7af0c6dbb48f197c965836205d610

Pharmacogenomic network analysis of the gene-drug interaction landscape underlying drug disposition

Authors: Yitian Zhou, Volker M. Lauschke

Source: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 52-58 (2020)

Subject Terms: Personalized medicine, Precision medicine, Gene-gene interactions, Missing heritability, Drug disposition, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037019303642; https://doaj.org/toc/2001-0370

Access URL: https://doaj.org/article/c590820243184cfdab99d7b392805096

Imperfect Linkage Disequilibrium Generates Phantom Epistasis (& Perils of Big Data)

Authors: Gustavo de los Campos, Daniel Alberto Sorensen, Miguel Angel Toro

Source: G3: Genes, Genomes, Genetics, Vol 9, Iss 5, Pp 1429-1436 (2019)

Subject Terms: epistasis, apparent epistasis, phantom epistasis, GWAS, linkage disequilibrium, imperfect LD, missing heritability, Big Data, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2160-1836

Access URL: https://doaj.org/article/3c46d5721229434585c32a5607b6f92e

Realized Genome Sharing in Heritability Estimation Using Random Effects Models

Authors: Bowen Wang, Elizabeth Thompson

Source: G3: Genes, Genomes, Genetics, Vol 9, Iss 5, Pp 1385-1391 (2019)

Subject Terms: kinship, random effects, asymptotic bias, missing heritability, model mis-specification, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2160-1836

Access URL: https://doaj.org/article/39bbfd4bf668457894d136ac0a863d72

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

Authors: Rajendra Bahadur Shahi, Sylvia De Brakeleer, Ben Caljon, Ingrid Pauwels, Maryse Bonduelle, Sofie Joris, Christel Fontaine, Marian Vanhoeij, Sonia Van Dooren, Erik Teugels, Jacques De Grève

Source: BMC Cancer, Vol 19, Iss 1, Pp 1-11 (2019)

Subject Terms: Familial breast cancer, Missing heritability, BRCA1 and BRCA2-negative, Whole exome sequencing, Candidate breast cancer predisposing genes/variants, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-019-5494-7; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/846510970de24dd1a99dcd1f16be8ccb

Genomic Variation, Evolvability, and the Paradox of Mental Illness

Authors: Camillo Thomas Gualtieri

Source: Frontiers in Psychiatry, Vol 11 (2021)

Subject Terms: autism, schizophrenia, genomic variability, evolvability, missing heritability, copy number variation, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2020.593233/full; https://doaj.org/toc/1664-0640

Access URL: https://doaj.org/article/892f9b010da4437cb529ca7b3beb0fba