The American Journal of Human Genetics · 2010 · 279 citations · 19 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersMendelian Neurological DisordersNeurogenetic DisordersRare Disease GeneticsRare Disease GenomicsVariant InterpretationClinical Exome SequencingExome SequencingExome Sequencing Analysis
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Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K citations · Full text
Human non-synonymous SNPs: server and survey
Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text
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
The diploid genome sequence of an Asian individual
Jun Wang, Wei Wang, Ruiqiang Li et al. · Nature · 2008 · 960 citations · Full text
Tomer Avidor‐Reiss, Andreia M Maer, Edmund J. Koundakjian et al. · Cell · 2004 · 512 citations · Full text