1. Maternal smoking DNA methylation risk score associated with health outcomes in offspring of European and South Asian ancestry

    This article has 17 authors:
    1. Wei Q Deng
    2. Nathan Cawte
    3. Natalie Campbell
    4. Sandi M Azab
    5. Russell J de Souza
    6. Amel Lamri
    7. Katherine M Morrison
    8. Stephanie A Atkinson
    9. Padmaja Subbarao
    10. Stuart E Turvey
    11. Theo J Moraes
    12. Koon K Teo
    13. Piush Mandhane
    14. Meghan B Azad
    15. Elinor Simons
    16. Guillaume Pare
    17. Sonia S Anand
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study offers a useful advance by introducing a cord blood DNA methylation score for maternal smoking effects, with the inclusion of cohorts from diverse backgrounds. However, the overall strength of evidence is deemed incomplete, due to concerns regarding low exposure levels and low statistical power, which hampers the generalisability of their findings. The study provides an interesting basis for future studies, but would benefit from the addition of more cohorts to validate the findings and a focus on more diverse health outcomes.

    Reviewed by eLife

    This article has 12 evaluationsAppears in 1 listLatest version Latest activity
  2. Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

    This article has 19 authors:
    1. Nadja Rotte
    2. Jessica E.M. Dunleavy
    3. Michelle D. Runkel
    4. Daniela Fietz
    5. Adrian Pilatz
    6. Johanna Kuss
    7. Ann-Kristin Dicke
    8. Sofia B. Winge
    9. Sara Di Persio
    10. Christian Ruckert
    11. Verena Nordhoff
    12. Hans-Christian Schuppe
    13. Kristian Almstrup
    14. Sabine Kliesch
    15. Nina Neuhaus
    16. Birgit Stallmeyer
    17. Moira K. O’Bryan
    18. Frank Tüttelmann
    19. Corinna Friedrich

    Reviewed by Review Commons

    This article has 4 evaluationsAppears in 1 listLatest version Latest activity
  3. Genomic landscape of endometrial, ovarian and cervical cancers in Japan from database in the Center for Cancer Genomics and Advanced Therapeutics

    This article has 8 authors:
    1. Qian Xi
    2. Hidenori Kage
    3. Miho Ogawa
    4. Asami Matsunaga
    5. Akira Nishijima
    6. Kenbun Sone
    7. Kei Kawana
    8. Katsutoshi Oda

    Reviewed by PREreview

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
  4. Ethnic and region-specific genetic risk variants of stroke and its comorbid conditions can define the variations in the burden of stroke and its phenotypic traits

    This article has 3 authors:
    1. Rashmi Sukumaran
    2. Achuthsankar S. Nair
    3. Moinak Banerjee
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This paper provides a useful analysis of the variation of the burden of strokes across geographic regions, finding differences in the relationship between strokes and their comorbidities. This dataset and the correlations found within will be a resource for directing the focus of future investigations. The statistical analyses are incomplete.

    Reviewed by eLife

    This article has 7 evaluationsAppears in 1 listLatest version Latest activity
  5. Risk factors affecting polygenic score performance across diverse cohorts

    This article has 21 authors:
    1. Daniel Hui
    2. Scott Dudek
    3. Krzysztof Kiryluk
    4. Theresa L. Walunas
    5. Iftikhar J. Kullo
    6. Wei-Qi Wei
    7. Hemant K. Tiwari
    8. Josh F. Peterson
    9. Wendy K. Chung
    10. Brittney Davis
    11. Atlas Khan
    12. Leah Kottyan
    13. Nita A. Limdi
    14. Qiping Feng
    15. Megan J. Puckelwartz
    16. Chunhua Weng
    17. Johanna L. Smith
    18. Elizabeth W. Karlson
    19. Regeneron Genetics Center
    20. Gail P. Jarvik
    21. Marylyn D. Ritchie
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents a convincing analysis of the effects of covariates, such as age, sex, socio-economic status, or biomarker levels, on the predictive accuracy of polygenic scores for body mass index; The work is further supported by important approaches for improving prediction accuracy by accounting for such covariates across a variety of association studies. The authors did a commendable job addressing reviewer suggestions and comments. The work will be of interest to colleagues using and developing methods for phenotypic prediction based on polygenic scores.

    Reviewed by eLife

    This article has 8 evaluationsAppears in 1 listLatest version Latest activity
  6. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects

    This article has 23 authors:
    1. Mengqi Ma
    2. Yiming Zheng
    3. Shenzhao Lu
    4. Xueyang Pan
    5. Kim C. Worley
    6. Lindsay C. Burrage
    7. Lauren S. Blieden
    8. Aimee Allworth
    9. Wei-Liang Chen
    10. Giuseppe Merla
    11. Barbara Mandriani
    12. Jill A. Rosenfeld
    13. David Li-Kroeger
    14. Debdeep Dutta
    15. Shinya Yamamoto
    16. Michael F. Wangler
    17. Undiagnosed Diseases Network
    18. Ian A. Glass
    19. Sam Strohbehn
    20. Elizabeth Blue
    21. Paolo Prontera
    22. Seema R. Lalani
    23. Hugo J. Bellen
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This important study reveals how Drosophila may be used to investigate the role of missense variants in the gene PLCG1 related to human disease in case studies. The evidence that most of these variants have a gain-of-function effect in the fly is convincing and supportive of their pathogenic effect. With some additional control experiments to assess overexpression toxicity, this work would be of relevance to human and Drosophila geneticists alike.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 1 listLatest version Latest activity
  7. Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank

    This article has 3 authors:
    1. Ardalan Naseri
    2. Degui Zhi
    3. Shaojie Zhang
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study is of potential interest to readers in human genetics and quantitative genetics, as it presents a new method for homozygosity mapping in population-scale datasets, based on an innovative computational algorithm that efficiently identifies runs-of-homozygosity (ROH) segments shared by many individuals. Although the method is innovative and has the potential to be broadly useful, its power and limitations have not yet been adequately evaluated. The application of this new method to the UK Biobank dataset identifies several interesting associations, but it remains currently unclear under what conditions the new approach can provide additional power over existing genome-wide association study methods.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 1 listLatest version Latest activity
  8. Explaining the counter-intuitive effectiveness of trophectoderm biopsy for PGT-A using computational modelling

    This article has 5 authors:
    1. Benjamin M Skinner
    2. Manuel Viotti
    3. International Registry of Mosaic Embryo Transfers (IRMET)
    4. Darren K Griffin
    5. Peter JI Ellis
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents a valuable computational model for elaborating on the interpretation of chromosomal mosaicism in preimplantation embryos. The evidence supporting the claims of the authors is incomplete due to the assumption that is possible to quantify the cells in the embryo, oversimplification of mitotic errors, and the inclusion of the self-correction premise. The work will be of interest to embryologists, and geneticists working on reproductive medicine.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 1 listLatest version Latest activity
  9. Novel risk loci for COVID-19 hospitalization among admixed American populations

    This article has 122 authors:
    1. Silvia Diz-de Almeida
    2. Raquel Cruz
    3. Andre D. Luchessi
    4. José M. Lorenzo-Salazar
    5. Miguel López de Heredia
    6. Inés Quintela
    7. Rafaela González-Montelongo
    8. Vivian N. Silbiger
    9. Marta Sevilla Porras
    10. Jair Antonio Tenorio Castaño
    11. Julian Nevado
    12. Jose María Aguado
    13. Carlos Aguilar
    14. Sergio Aguilera-Albesa
    15. Virginia Almadana
    16. Berta Almoguera
    17. Nuria Alvarez
    18. Álvaro Andreu-Bernabeu
    19. Eunate Arana-Arri
    20. Celso Arango
    21. María J. Arranz
    22. Maria-Jesus Artiga
    23. Raúl C. Baptista-Rosas
    24. María Barreda- Sánchez
    25. Moncef Belhassen-Garcia
    26. Joao F. Bezerra
    27. Marcos A.C. Bezerra
    28. Lucía Boix-Palop
    29. María Brion
    30. Ramón Brugada
    31. Matilde Bustos
    32. Enrique J. Calderón
    33. Cristina Carbonell
    34. Luis Castano
    35. Jose E. Castelao
    36. Rosa Conde-Vicente
    37. M. Lourdes Cordero-Lorenzana
    38. Jose L. Cortes-Sanchez
    39. Marta Corton
    40. M. Teresa Darnaude
    41. Alba De Martino-Rodríguez
    42. Victor del Campo-Pérez
    43. Aranzazu Diaz de Bustamante
    44. Elena Domínguez-Garrido
    45. Rocío Eirós
    46. María Carmen Fariñas
    47. María J. Fernandez-Nestosa
    48. Uxía Fernández-Robelo
    49. Amanda Fernández-Rodríguez
    50. Tania Fernández-Villa
    51. Manuela Gago-Domínguez
    52. Belén Gil-Fournier
    53. Javier Gómez-Arrue
    54. Beatriz González Álvarez
    55. Fernan Gonzalez Bernaldo de Quirós
    56. Anna González-Neira
    57. Javier González-Peñas
    58. Juan F. Gutiérrez-Bautista
    59. María José Herrero
    60. Antonio Herrero-Gonzalez
    61. María A. Jimenez-Sousa
    62. María Claudia Lattig
    63. Anabel Liger Borja
    64. Rosario Lopez-Rodriguez
    65. Esther Mancebo
    66. Caridad Martín-López
    67. Vicente Martín
    68. Oscar Martinez-Nieto
    69. Iciar Martinez-Lopez
    70. Michel F. Martinez-Resendez
    71. Ángel Martinez-Perez
    72. Juliana F. Mazzeu
    73. Eleuterio Merayo Macías
    74. Pablo Minguez
    75. Victor Moreno Cuerda
    76. Silviene F. Oliveira
    77. Eva Ortega-Paino
    78. Mara Parellada
    79. Estela Paz-Artal
    80. Ney P.C. Santos
    81. Patricia Pérez-Matute
    82. Patricia Perez
    83. M. Elena Pérez-Tomás
    84. Teresa Perucho
    85. Mel·lina Pinsach-Abuin
    86. Guillermo Pita
    87. Ericka N. Pompa-Mera
    88. Gloria L. Porras-Hurtado
    89. Aurora Pujol
    90. Soraya Ramiro León
    91. Salvador Resino
    92. Marianne R. Fernandes
    93. Emilio Rodríguez-Ruiz
    94. Fernando Rodriguez-Artalejo
    95. José A. Rodriguez-Garcia
    96. Francisco Ruiz-Cabello
    97. Javier Ruiz-Hornillos
    98. Pablo Ryan
    99. José Manuel Soria
    100. Juan Carlos Souto
    101. Eduardo Tamayo
    102. Alvaro Tamayo-Velasco
    103. Juan Carlos Taracido-Fernandez
    104. Alejandro Teper
    105. Lilian Torres-Tobar
    106. Miguel Urioste
    107. Juan Valencia-Ramos
    108. Zuleima Yáñez
    109. Ruth Zarate
    110. Itziar de Rojas
    111. Agustín Ruiz
    112. Pascual Sánchez
    113. Luis Miguel Real
    114. SCOURGE Cohort Group
    115. Encarna Guillen-Navarro
    116. Carmen Ayuso
    117. Esteban Parra
    118. José A. Riancho
    119. Augusto Rojas-Martinez
    120. Carlos Flores
    121. Pablo Lapunzina
    122. Ángel Carracedo
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      The authors conduct a valuable GWAS meta-analysis for COVID-19 hospitalization in admixed American populations and prioritized risk variants and genes. The evidence supporting the claims of the authors is incomplete. The work will be of interest to scientists studying the genetic basis of COVID pathogenesis.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 1 listLatest version Latest activity
  10. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

    This article has 13 authors:
    1. Xueyang Pan
    2. Albert N Alvarez
    3. Mengqi Ma
    4. Shenzhao Lu
    5. Michael W Crawford
    6. Lauren C Briere
    7. Oguz Kanca
    8. Shinya Yamamoto
    9. David A Sweetser
    10. Jenny L Wilson
    11. Ruth J Napier
    12. Jonathan N Pruneda
    13. Hugo J Bellen
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      The authors establish a Drosophila model to assess the severity of disease-linked alleles of Uba5. Using both in vivo and in vitro experiments, this valuable study demonstrates the alleles fall into mild, intermediate, and severe classes, with convincing evidence to support their conclusion. This well-executed study establishes a model for further characterization of Uba5-related phenotypes in a powerful model system.

    Reviewed by eLife

    This article has 10 evaluationsAppears in 1 listLatest version Latest activity