Genetic and Genomic Medicine

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

1. Anne Hebert
2. Annet Simons
3. Janneke HM Schuurs-Hoeijmakers
4. Hans JPM Koenen
5. Evelien Zonneveld-Huijssoon
6. Stefanie SV Henriet
7. Ellen JH Schatorjé
8. Esther PAH Hoppenreijs
9. Erika KSM Leenders
10. Etienne JM Janssen
11. Gijs WE Santen
12. Sonja A de Munnik
13. Simon V van Reijmersdal
14. Esther van Rijssen
15. Simone Kersten
16. Mihai G Netea
17. Ruben L Smeets
18. Frank L van de Veerdonk
19. Alexander Hoischen
20. Caspar I van der Made

• Curated by eLife

  Evaluation Summary:

  This study reports on the diagnostic utility of TRIO-based whole-exome sequencing (WES) in a cohort of 123 unrelated patients with suspected monogenic inborn errors of immunity. The authors further explored the diagnostic rate in this cohort by focusing their analyses on the identification of de novo variants (DNVs). This manuscript will be of interest to medical geneticists, immunologists, and physicians working with patients with primary immunodeficiencies.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. The reviewers remained anonymous to the authors.)

Reviewed by eLife

Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial

1. Montaser F Shaheen
2. Julie Y Tse
3. Ethan S Sokol
4. Margaret Masterson
5. Pranshu Bansal
6. Ian Rabinowitz
7. Christy A Tarleton
8. Andrey S Dobroff
9. Tracey L Smith
10. Thèrése J Bocklage
11. Brian K Mannakee
12. Ryan N Gutenkunst
13. Joyce Bischoff
14. Scott A Ness
15. Gregory M Riedlinger
16. Roman Groisberg
17. Renata Pasqualini
18. Shridar Ganesan
19. Wadih Arap

• Curated by eLife

  Evaluation Summary:

  This manuscript could be of interest to physicians and researchers in the field of vascular anomalies. The cohort of patients with lymphatic malformations is reasonably sized (n=30) and the claims made by the authors are supported by the data as well as by current knowledge in the field.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. Reviewer #1 agreed to share their name with the authors.)

Reviewed by eLife

SARS-CoV-2 genomic surveillance in Rwanda: Introductions and local transmission of the B.1.617.2 (Delta) variant of concern

1. Yvan Butera
2. Samuel L. Hong
3. Muhammed Semakula
4. Nena Bollen
5. Verity Hill
6. Áine Niamh O’Toole
7. Barney I. Potter
8. Dieudonné Mutangana
9. Reuben Sindayiheba
10. Robert Rutayisire
11. Maria Artesi
12. Vincent Bours
13. Nadine Rujeni
14. Simon Dellicour
15. Keith Durkin
16. Leon Mutesa
17. Guy Baele

Reviewed by ScreenIT

A Repeat Pattern of Founder Events for SARS-CoV-2 Variants in Alaska

1. Tracie J. Haan
2. Lisa K. Smith
3. Stephanie DeRonde
4. Elva House
5. Jacob Zidek
6. Diana Puhak
7. Logan Mullen
8. Matthew Redlinger
9. Jayme Parker
10. Brian M. Barnes
11. Jason L. Burkhead
12. Cindy Knall
13. Eric Bortz
14. Jack Chen
15. Devin M. Drown

Reviewed by ScreenIT

A Monte Carlo Estimation of the Narrow-Sense Heritability of COVID-19 Infection and Severity from AncestryDNA Survey Data

1. Amelia J. Averitt
2. Deepika Sharma
3. Michael Cantor

Reviewed by ScreenIT

Shared genetic etiology and causality between COVID-19 and venous thromboembolism: evidence from genome-wide cross trait analysis and bi-directional Mendelian randomization study

1. Xin Huang
2. Minhao Yao
3. Peixin Tian
4. Jason Y.Y. Wong
5. Zilin Li
6. Zhonghua Liu
7. Jie V. Zhao

Reviewed by ScreenIT

Substance abuse and the risk of severe COVID-19: Mendelian randomization confirms the causal role of opioids but hints a negative causal effect for cannabinoids

1. M. Reza Jabalameli
2. Zhengdong D. Zhang

Reviewed by ScreenIT

COVID-19 relevant genetic variants confirmed in an admixed population

1. Tomas Texis
2. José Luis Cruz-Jaramilllo
3. Willebaldo García-Muñoz
4. Lourdes Anzures-Cortés
5. Lorenza Haddad-Talancón
6. Sergio Sánchez-García
7. María del Carmen Jiménez Martínez
8. Edgar Pérez Barragán
9. Alejandro Nieto-Patlán
10. José D. Martínez-Ezquerro
11. Kenneth Rubio-Carrasco
12. Mauricio Rodríguez-Dorantes
13. Sergio Cortés-Ramírez
14. Gabriela Mellado-Sánchez
15. Sonia Mayra Pérez-Tapia
16. Vanessa Gonzalez-Covarrubias

Reviewed by ScreenIT

Delta/ Omicron and BA.1/BA.2 co-infections occurring in Immunocompromised hosts

1. Richard Leuking
2. Madhusudhanan Narasimhan
3. Lenin Mahimainathan
4. Alagar R Muthukumar
5. Yan Liu
6. Chao Xing
7. Christian P. Larsen
8. Andrew Clark
9. Jeffrey A. SoRelle

Reviewed by ScreenIT

Low-dose IL-2 reduces IL-21 ⁺ T cells and induces a long-lived anti-inflammatory gene expression signature inversely modulated in COVID-19 patients

1. Jia-Yuan Zhang
2. Fiona Hamey
3. Dominik Trzupek
4. Marius Mickunas
5. Mercede Lee
6. Leila Godfrey
7. Jennie H.M. Yang
8. Marcin L Pekalski
9. Jane Kennet
10. Frank Waldron-Lynch
11. Mark L. Evans
12. Timothy I. M. Tree
13. Linda S. Wicker
14. John A. Todd
15. Ricardo C. Ferreira

Reviewed by ScreenIT