. Author manuscript; available in PMC: 2015 Oct 1.

Published in final edited form as: J Law Med Ethics. 2014 Fall;42(0 1):42–50. doi: 10.1111/jlme.12161

Table 1.

Representative claims from US patents that could be interpreted as infringed by WGS

Type of claim	US Patent Number/Title (use)	Representative Claims
DNA Composition of Matter	US 5,747,282 17Q-linked breast and ovarian cancer susceptibility gene (BRCA1, inherited risk of breast, ovarian and other cancers)	Claim 1: An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having the amino acid sequence set forth in SEQ ID NO:2 (brca1 peptide). Claim 2: The isolated DNA of claim 1, wherein said DNA has the nucleotide sequence set forth in SEQ ID NO:1 (BRCA1 cDNA). Claim 5: An isolated DNA having at least 15 nucleotides of the DNA of claim 1. Claim 6: An isolated DNA having at least 15 nucleotides of the DNA of claim 2. Claim 16: A pair of single-stranded DNA primers for determination of a nuycleotide [sic] sequence of a BRCA1 gene by a polymerase chin [sic] reaction, the sequence of said primers being derived from human chromosomne [sic] 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene.
DNA Composition of Matter	US 5,679,635 Aspartoacylase gene, protein, and methods of screening for mutations associated with Canavan disease (ASPA gene)	Claim 1: An isolated nucleic acid molecule comprising: (a) a nucleic acid sequence encoding a human aspartoacylase polypeptide; (b) a nucleic acid sequence fully complementary to nucleic acid sequence (a); or (c) a nucleic acid sequence at least 16 nucleotides in length capable of hybridizing specifically with one of said nucleic acid molecules (a) or (b).
DNA Diagnostic Method	US 5,753,441 170-linked (sic) breast and ovarian cancer susceptibility gene (BRCA1, inherited risk of breast and ovarian cancer)	Claim 1: A method for screening germline of a human subject for an alteration of a BRCA1 gene which comprises comparing germline sequence of a BRCA1 gene or BRCA1 RNA from a tissue sample from said subject or a sequence of BRCA1 cDNA made from mRNA from said sample with germline sequences of wild-type BRCA1 gene, wild-type BRCA1 RNA or wild-type BRCA1 cDNA, wherein a difference in the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA of the subject from wild-type indicates an alteration in the BRCA1 gene in said subject.
	US 5,710,001 17q-linked breast and ovarian cancer susceptibility gene (BRCA1, inherited risk of breast and ovarian cancer)	Claim 1: A method for screening a tumor sample from a human subject for a somatic alteration in a BRCA1 gene in said tumor which comprises gene comparing a first sequence selected form the group consisting of a BRCA1 gene from said tumor sample, BRCA1 RNA from said tumor sample and BRCA1 cDNA made from mRNA from said tumor sample with a second sequence selected from the group consisting of BRCA1 gene from a nontumor sample of said subject, BRCA1 RNA from said nontumor sample and BRCA1 cDNA made from mRNA from said nontumor sample, wherein a difference in the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA from said tumor sample from the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA from said nontumor sample indicates a somatic alteration in the BRCA1 gene in said tumor sample.
	US 5,709,999 Linked breast and ovarian cancer susceptibility gene (BRCA1, inherited risk of breast and ovarian cancer)	Claim 1: A method for detecting a germline alteration in a BRCA1 gene, said alteration selected from the group consisting of the alterations set forth in Tables 12A, 14, 18 or 19 in a human which comprises analyzing a sequence of a BRCA1 gene or BRCA1 RNA from a human sample or analyzing a sequence of BRCA1 cDNA made from mRNA from said human sample with the proviso that said germline alteration is not a deletion of 4 nucleotides corresponding to base numbers 4184–4187 of SEQ ID NO:1.
	US 7,993,835 BRCA2 mutations and use thereof (Risk of breast, ovarian and other cancers)	Claim 1: A method for detecting a mutation in a BRCA2 allele comprising: analyzing a BRCA2 nucleic acid from a sample obtained from a human subject; and detecting a mutation in said nucleic acid wherein said mutation results in the deletion of five nucleotides beginning at position 4,633 of a BRCA2 cDNA.
	US 5,508,167 Methods Of Screening For Alzheimer’s Disease (APOE risk)	Claim 1: A method of detecting if a subject is at increased risk of developing late onset Alzheimer’s disease (AD) comprising directly or indirectly: detecting the presence or absence of an apolipoprotein E type 4 isoform (ApoE4) in the subject; and observing whether or not the subject is at increased risk of developing late onset AD by observing if the presence of ApoE4 is or is not detected, wherein the presence of ApoE4 indicates said subject is at increased risk of developing late onset AD.
	US 7214483 KCNQ2 and KCNQ3, potassium channel genes mutated in benign familial neonatal convulsions (BFNC) and other epilepsies	Claim 1. A method for diagnosing the presence of a mutation in human KCNQ2 which causes BFNC or rolandic epilepsy wherein said method is performed by means which identify the presence of said mutation, [lists specific mutations]. Claim 2. The method of claim 1 wherein said means comprises sequencing human KCNQ2.