Concepedia

A robust benchmark for detection of germline large deletions and insertions

Justin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen T. Sherry, Sergey Koren, Adam M. Phillippy, Paul C. Boutros,

Nature Biotechnology · 2020 · 483 citations · 60 references

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60

Strong Association of De Novo Copy Number Mutations with Autism

Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra et al. · Science · 2007 · 2.8K citations · Full text

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An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text

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Large-Scale Copy Number Polymorphism in the Human Genome

Jonathan Sebat, B. Lakshmi, Jennifer Troge et al. · Science · 2004 · 2.6K citations

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Phased diploid genome assembly with single-molecule real-time sequencing

Chen-Shan Chin, Paul Peluso, Fritz J. Sedlazeck et al. · Nature Methods · 2016 · 2.2K citations · Full text

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Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain, Sergey Koren, Karen H. Miga et al. · Nature Biotechnology · 2018 · 2.1K citations · Full text

, , +9