Concepedia

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

Junxia Yan, Tsutomu Takahashi, Toshihiro Ohura, Hiroyuki Adachi, Ikuko Takahashi, Eishin Ogawa, Hiroko Okuda, Hatasu Kobayashi, Toshiaki Hitomi, Wanyang Liu,

Journal of Human Genetics · 2013 · 28 citations · 24 references

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24

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

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The DNA sequence of human chromosome 21

Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

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