Literature DB >> 32488197

Exploring human genomic diversity with gnomAD.

Linda Koch1.   

Abstract

Entities:  

Year:  2020        PMID： 32488197     DOI： 10.1038/s41576-020-0255-7

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  22 in total

1.  Predominant monomorphism of the RIT2 and GPM6B exceptionally long GA blocks in human and enriched divergent alleles in the disease compartment.

Authors:  S Khamse; M Arabfard; M Salesi; E Behmard; Z Jafarian; H Afshar; M Khazaei; M Ohadi
Journal:  Genetica       Date:  2022-01-05       Impact factor: 1.082

Review 2.  The Architecture of a Precision Oncology Platform.

Authors:  Alessandro Laganà
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 2.622

3.  Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.

Authors:  Gillian M Belbin; Stephanie Rutledge; Tetyana Dodatko; Sinead Cullina; Michael C Turchin; Sumita Kohli; Denis Torre; Muh-Ching Yee; Christopher R Gignoux; Noura S Abul-Husn; Sander M Houten; Eimear E Kenny
Journal:  Am J Hum Genet       Date:  2021-10-21       Impact factor: 11.025

4.  Rare germline deleterious variants increase susceptibility for lung cancer.

Authors:  Jian Sang; Tongwu Zhang; Jung Kim; Mengying Li; Angela C Pesatori; Dario Consonni; Lei Song; Jia Liu; Wei Zhao; Phuc H Hoang; Dave S Campbell; James Feng; Monica E D'Arcy; Naoise Synnott; Yingxi Chen; Zeni Wu; Bin Zhu; Xiaohong R Yang; Kevin M Brown; Jiyeon Choi; Jianxin Shi; Maria Teresa Landi
Journal:  Hum Mol Genet       Date:  2022-10-10       Impact factor: 5.121

5.  Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Authors:  Flora Doffe; Vincent Carbonnier; Manon Tissier; Bernard Leroy; Isabelle Martins; Johanna S M Mattsson; Patrick Micke; Sarka Pavlova; Sarka Pospisilova; Jana Smardova; Andreas C Joerger; Klas G Wiman; Guido Kroemer; Thierry Soussi
Journal:  Cell Death Differ       Date:  2020-11-30       Impact factor: 15.828

6.  WEVar: a novel statistical learning framework for predicting noncoding regulatory variants.

Authors:  Ye Wang; Yuchao Jiang; Bing Yao; Kun Huang; Yunlong Liu; Yue Wang; Xiao Qin; Andrew J Saykin; Li Chen
Journal:  Brief Bioinform       Date:  2021-11-05       Impact factor: 13.994

7.  A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.

Authors:  Tiziana Bachetti; Simona Bagnasco; Raffaele Piumelli; Antonella Palmieri; Isabella Ceccherini
Journal:  Front Neurol       Date:  2021-03-19       Impact factor: 4.003

Review 8.  Moving Toward Patient-Tailored Treatment in ALS and FTD: The Potential of Genomic Assessment as a Tool for Biological Discovery and Trial Recruitment.

Authors:  Iris J Broce; Patricia A Castruita; Jennifer S Yokoyama
Journal:  Front Neurosci       Date:  2021-03-01       Impact factor: 4.677

9.  CSVS, a crowdsourcing database of the Spanish population genetic variability.

Authors:  María Peña-Chilet; Gema Roldán; Javier Perez-Florido; Francisco M Ortuño; Rosario Carmona; Virginia Aquino; Daniel Lopez-Lopez; Carlos Loucera; Jose L Fernandez-Rueda; Asunción Gallego; Francisco García-Garcia; Anna González-Neira; Guillermo Pita; Rocío Núñez-Torres; Javier Santoyo-López; Carmen Ayuso; Pablo Minguez; Almudena Avila-Fernandez; Marta Corton; Miguel Ángel Moreno-Pelayo; Matías Morin; Alvaro Gallego-Martinez; Jose A Lopez-Escamez; Salud Borrego; Guillermo Antiñolo; Jorge Amigo; Josefa Salgado-Garrido; Sara Pasalodos-Sanchez; Beatriz Morte; Ángel Carracedo; Ángel Alonso; Joaquín Dopazo
Journal:  Nucleic Acids Res       Date:  2021-01-08       Impact factor: 16.971

10.  Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.

Authors:  Fozia Fozia; Rubina Nazli; Sher Alam Khan; Ahmed Bari; Abdul Nasir; Riaz Ullah; Hafiz Majid Mahmood; Muhammad Sohaib; Abdulrahman Alobaid; Siddique A Ansari; Sulman Basit; Saadullah Khan
Journal:  Genes (Basel)       Date:  2021-03-05       Impact factor: 4.096
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