Leslie G. Biesecker

Molecular Biology · 2010–2022

A researcher in the Science corpus: 9 papers; trusts 1 researcher and is trusted by 0 researchers here, as inferred from the citation graph.

Subfields

• Molecular Biology — 68 citations into it

Whom Leslie G. Biesecker trusts overall

Their strongest outbound trust, strongest first, inferred from their citations.

1. Elaine R. Mardis

Who trusts Leslie G. Biesecker overall

1. Dominic Grün

Papers from Leslie G. Biesecker's perspective

Ordered by how strongly the researchers Leslie G. Biesecker trusts endorse each paper. Same corpus, a different order for every researcher.

1. Analysis of protein-coding genetic variation in 60,706 humans
2. Global variation in copy number in the human genome (Nature)
3. The diagnostic odds ratio: a single indicator of test performance. (Journal of Clinical Epidemiology)
4. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 (Nature Communications)
5. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs (Genome Medicine)
6. Empirical Bayes Analysis of a Microarray Experiment
7. Empirical bayes methods and false discovery rates for microarrays (Genetic Epidemiology)
8. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework (Genome Medicine)
9. The UCSC Genome Browser database: 2018 update
10. AceView: a comprehensive cDNA-supported gene and transcripts annotation (Genome Biology)

Their papers

• Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) — 2,697 citations
• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022) — 419 citations
• Mapping the human genetic architecture of COVID-19 (2021) — 807 citations
• Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework (2018) — 498 citations
• Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion (2018) — 754 citations
• Guidelines for investigating causality of sequence variants in human disease (2014) — 1,235 citations
• Diagnostic clinical genome and exome sequencing. (2014) — 621 citations
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2013) — 2,486 citations
• A genomic view of mosaicism and human disease (2013) — 602 citations