Standout Papers

Twelve years of SAMtools and BCFtools 2021 2026 2022 20245.6k
  1. Twelve years of SAMtools and BCFtools (2021)
    Petr Danecek, James Bonfield et al. GigaScience

Citation Impact

Citing Papers

MicroRNA-mediated gene regulation and the resilience of multicellular animals
2024 StandoutNobel
The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
2022 StandoutNobel
The UK Biobank resource with deep phenotyping and genomic data
2018 StandoutNature
Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism
2014
Parkinson's disease
2021 Standout
The epidemiology of urinary tract infection
2010 Standout
Elucidating the genetic architecture of reproductive ageing in the Japanese population
2018
The Association Between HTR2C Gene Polymorphisms and the Metabolic Syndrome in Patients With Schizophrenia
2007
The Human Obesity Gene Map: The 2005 Update
2006
Toll-Like Receptor Polymorphisms and Susceptibility to Urinary Tract Infections in Adult Women
2009
Large mosaic copy number variations confer autism risk
2021
Host–pathogen interactions in urinary tract infection
2010
The developmentally timed decay of an essential microRNA family is seed-sequence dependent
2022
Large language models in medicine
2023 Standout
Resolving the paradox of common, harmful, heritable mental disorders: Which evolutionary genetic models work best?
2006
Platelet serotonin concentration and monoamine oxidase type B activity in female patients in early, middle and late phase of Alzheimer's disease
2009
Multimodal biomedical AI
2022 Standout
TSSNote-CyaPromBERT: Development of an integrated platform for highly accurate promoter prediction and visualization of Synechococcus sp. and Synechocystis sp. through a state-of-the-art natural language processing model BERT
2022
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight
2011 StandoutNobel
Susceptibility to acute pyelonephritis or asymptomatic bacteriuria: Host–pathogen interaction in urinary tract infections
2012
Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations
2021
The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives
2020 Standout
Genetic Variation of the Human Urinary Tract Innate Immune Response and Asymptomatic Bacteriuria in Women
2009
Uncomplicated Urinary Tract Infection
2012 Standout
Genetic Stratigraphy of Key Demographic Events in Arabia
2015
Urinary tract infections: epidemiology, mechanisms of infection and treatment options
2015 Standout
Mining museums for historical DNA: advances and challenges in museomics
2021 Standout
TBtools-II: A “one for all, all for one” bioinformatics platform for biological big-data mining
2023 Standout
Utility and implications of exome sequencing in early‐onset Parkinson's disease
2018
Complicated urinary tract infections
2008
Urinary Tract Infection Syndromes
2013 Standout
Alzheimer and platelets: Low-density platelet populations reveal increased serotonin content in Alzheimer type dementia
2014 StandoutNobel
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Expression of carnitine palmitoyl-CoA transferase-1B is influenced by a cis-acting eQTL in two chicken lines selected for high and low body weight
2013 StandoutNobel
Family History and Risk of Recurrent Cystitis and Pyelonephritis in Women
2010
Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score
2019
Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa
2015 StandoutScience
The Neandertal Progesterone Receptor
2020 StandoutNobel
Advances and controversies in the management of soft tissue sarcomas
2016
Genomic library preparation and hybridization capture of formalin‐fixed tissues and allozyme supernatant for population genomics and considerations for combining capture‐ and RADseq‐based single nucleotide polymorphism data sets
2021
Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development
2022 StandoutNobel
Association of HTR2C , But Not LEP or INSIG2 , Genes with Antipsychotic-Induced Weight Gain in a German Sample
2010
Genome-wide association studies
2021
Physical illness in patients with severe mental disorders. I. Prevalence, impact of medications and disparities in health care
2011 Standout
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
The dark triad: Facilitating a short‐term mating strategy in men
2008 Standout
MetaboAnalyst 5.0: narrowing the gap between raw spectra and functional insights
2021 Standout

Works of Shane McCarthy being referenced

BCFtools/csq: haplotype-aware variant consequences
2017
Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease
2017
MAOA haplotypes associated with thrombocyte-MAO activity
2005
Complex HTR2C linkage disequilibrium and promoter associations with body mass index and serum leptin
2005
A Genetic Basis of Susceptibility to Acute Pyelonephritis
2007
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
2017
Serotonin receptor 2C (HTR2C) and schizophrenia: Examination of possible medication and genetic influences on expression levels
2005
Reference-based phasing using the Haplotype Reference Consortium panel
2016
A calibrated human Y-chromosomal phylogeny based on resequencing
2012
3403 Final overall survival (OS) analysis of the randomized phase 3 study of trabectedin (T) or dacarbazine (D) for the treatment of patients (pts) with advanced leiomyosarcoma (LMS) or liposarcoma (LPS)
2015
Twelve years of SAMtools and BCFtools
2021 Standout
Rankless by CCL
2026