Author

Guilherme Lopes Yamamoto

Universidade de São PauloORCID 0000-0002-0490-8257Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 3 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 5 Approach:statistical model· 4 Approach:experimental assay· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Maria Rita Passos‐BuenoiD· 3 shared Marília O. ScliariD· 3 shared Mayana ZatziD· 3 shared Michel Satya NaslavskyiD· 3 shared Yeda A. O. DuarteiD· 3 shared Bernardo Lessa HortaiD· 2 shared Eduardo Tarazona‐SantosiD· 2 shared Heinner GuioiD· 2 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetics

Maria Rita Passos‐BuenoORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 28, 2023

HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad's myChoice(R), SOPHiA GENETICS SOPHiA Homologous Recombination Solution(R) and AmoyDx HRD Focus Panel(R)

Rodrigo Guarischi‐Sousa, José Eduardo Kroll, Adriano Bonaldi…·Guilherme Lopes Yamamoto

HRD-One provides a reproducible HRD score with high concordance to myChoice(R) and identifies HRD in ovarian cancer samples with and without BRCA1/2 mutations.

4 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsNature CommunicationsPeer-reviewedMar 4, 2022

Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (Sao Paulo, Brazil)

Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto…·Mayana Zatz

This study presents a high-coverage whole-genome sequencing dataset of 1,171 admixed elderly Brazilians, identifying novel variants and demonstrating the utility of WGS for genomic and clinical research in underrepresented populations.

160 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsInternational Journal of ObesityPeer-reviewedFeb 25, 2021

Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes

Marília O. Scliar, Hanaisa P. Sant’Anna, Meddly L. Santolalla…·Eduardo Tarazona‐Santos

The paper identifies a West African-associated regulatory variant with a strong female-specific effect on BMI and fat mass in Brazilian admixed populations.

10 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsBMC GenomicsPeer-reviewedJun 29, 2020

Structural variation of the malaria-associated human glycophorin A-B-E region

Sandra Louzada, Walid Algady, Eleanor Weyell…·Edward J. Hollox

The paper analyzes structural variation in the glycophorin gene cluster across 6466 genomes, identifies 15 known and 9 new variants, and links structural variants to recombination hotspots.

13 citations

humanDNA methylation

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 19, 2019

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.

Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira…·David L. Valle

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

DOI 10.1101/2019.12.19.882191

humanproteomics

𝕏 PostBluesky