Skip to content

Commit

Permalink
Merge pull request #25 from bcgsc/bugfix/KBDEV-1236-matching-to-exon2…
Browse files Browse the repository at this point in the history 
…0insertion

KBDEV-1236
  • Loading branch information
@mathieulemieux
mathieulemieux authored Oct 1, 2024
2 parents 303c611 + d4781cd commit 3fae486
Show file tree
Hide file tree
Showing 2 changed files with 91 additions and 14 deletions.
66 changes: 64 additions & 2 deletions pori_python/graphkb/match.py
View file
Original file line number Diff line number Diff line change
Expand Up @@ -31,7 +31,12 @@
looks_like_rid,
stringifyVariant,
)
from .vocab import get_equivalent_terms, get_term_tree, get_terms_set
from .vocab import (
get_equivalent_terms,
get_term_by_name,
get_term_tree,
get_terms_set,
)

FEATURES_CACHE: Set[str] = set()

Expand Down Expand Up @@ -275,7 +280,55 @@ def positions_overlap(
return start is None or pos == start


def equivalent_types(
conn: GraphKBConnection,
type1: str,
type2: str,
strict: bool = False,
) -> bool:
"""
Compare 2 variant types to determine if they should match
Args:
conn: the graphkb connection object
type1: type from the observed variant we want to match to the DB
type2: type from the DB variant
strict: wether or not only the specific-to-generic ones are considered.
By default (false), not only specific types can match more generic ones,
but generic types can also match more specific ones.
Returns:
bool: True if the types can be matched
"""

# Convert rid to displayName if needed
if looks_like_rid(type1):
type1 = conn.get_records_by_id([type1])[0]['displayName']
if looks_like_rid(type2):
type2 = conn.get_records_by_id([type2])[0]['displayName']

# Get type terms from observed variant
terms1 = []
if strict:
try:
terms1.append(get_term_by_name(conn, type1)['@rid'])
except:
pass
else:
terms1 = get_terms_set(conn, [type1])

# Get type terms from DB variant
terms2 = get_terms_set(conn, [type2])

# Check for intersect
if len(terms2.intersection(terms1)) == 0:
return False

return True


def compare_positional_variants(
conn: GraphKBConnection,
variant: Union[PositionalVariant, ParsedVariant],
reference_variant: Union[PositionalVariant, ParsedVariant],
generic: bool = True,
Expand Down Expand Up @@ -378,6 +431,11 @@ def compare_positional_variants(
elif len(variant["refSeq"]) != len(reference_variant["refSeq"]): # type: ignore
return False

# Equivalent types
if variant.get('type') and reference_variant.get('type'):
if not equivalent_types(conn, variant["type"], reference_variant["type"]):
return False

return True


Expand Down Expand Up @@ -598,10 +656,14 @@ def match_positional_variant(
):
# TODO: Check if variant and reference_variant should be interchanged
if compare_positional_variants(
variant=parsed, reference_variant=cast(PositionalVariant, row), generic=True
conn,
variant=parsed,
reference_variant=cast(PositionalVariant, row),
generic=True,
):
filtered_similarAndGeneric.append(row)
if compare_positional_variants(
conn,
variant=parsed,
reference_variant=cast(PositionalVariant, row),
generic=False, # Similar variants only
Expand Down
39 changes: 27 additions & 12 deletions tests/test_graphkb/test_match.py
View file
Original file line number Diff line number Diff line change
Expand Up @@ -269,80 +269,95 @@ def test_known_increased_expression(self, conn):
class TestComparePositionalVariants:
def test_nonspecific_altseq(self):
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}}
conn, {"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}}
)
# null matches anything
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}, "untemplatedSeq": "T"}, {"break1Start": {"pos": 1}}
conn, {"break1Start": {"pos": 1}, "untemplatedSeq": "T"}, {"break1Start": {"pos": 1}}
)
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}, "untemplatedSeq": "T"}
conn, {"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}, "untemplatedSeq": "T"}
)

@pytest.mark.parametrize("seq1", ["T", "X", "?"])
@pytest.mark.parametrize("seq2", ["T", "X", "?"])
def test_ambiguous_altseq(self, seq1, seq2):
# ambiguous AA matches anything the same length
assert match.compare_positional_variants(
conn,
{"break1Start": {"pos": 1}, "untemplatedSeq": seq1},
{"break1Start": {"pos": 1}, "untemplatedSeq": seq2},
)

def test_altseq_length_mismatch(self):
assert not match.compare_positional_variants(
conn,
{"break1Start": {"pos": 1}, "untemplatedSeq": "??"},
{"break1Start": {"pos": 1}, "untemplatedSeq": "T"},
)
assert not match.compare_positional_variants(
conn,
{"break1Start": {"pos": 1}, "untemplatedSeq": "?"},
{"break1Start": {"pos": 1}, "untemplatedSeq": "TT"},
)

def test_nonspecific_refseq(self):
# null matches anything
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": "T"}, {"break1Start": {"pos": 1}}
conn, {"break1Start": {"pos": 1}, "refSeq": "T"}, {"break1Start": {"pos": 1}}
)
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}, "refSeq": "T"}
conn, {"break1Start": {"pos": 1}}, {"break1Start": {"pos": 1}, "refSeq": "T"}
)

@pytest.mark.parametrize("seq1", ["T", "X", "?"])
@pytest.mark.parametrize("seq2", ["T", "X", "?"])
def test_ambiguous_refseq(self, seq1, seq2):
# ambiguous AA matches anything the same length
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": seq1}, {"break1Start": {"pos": 1}, "refSeq": seq2}
conn,
{"break1Start": {"pos": 1}, "refSeq": seq1},
{"break1Start": {"pos": 1}, "refSeq": seq2},
)

def test_refseq_length_mismatch(self):
assert not match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": "??"}, {"break1Start": {"pos": 1}, "refSeq": "T"}
conn,
{"break1Start": {"pos": 1}, "refSeq": "??"},
{"break1Start": {"pos": 1}, "refSeq": "T"},
)
assert not match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": "?"}, {"break1Start": {"pos": 1}, "refSeq": "TT"}
conn,
{"break1Start": {"pos": 1}, "refSeq": "?"},
{"break1Start": {"pos": 1}, "refSeq": "TT"},
)

def test_diff_altseq(self):
assert not match.compare_positional_variants(
conn,
{"break1Start": {"pos": 1}, "untemplatedSeq": "M"},
{"break1Start": {"pos": 1}, "untemplatedSeq": "R"},
)

def test_same_altseq_matches(self):
assert match.compare_positional_variants(
conn,
{"break1Start": {"pos": 1}, "untemplatedSeq": "R"},
{"break1Start": {"pos": 1}, "untemplatedSeq": "R"},
)

def test_diff_refseq(self):
assert not match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": "M"}, {"break1Start": {"pos": 1}, "refSeq": "R"}
conn,
{"break1Start": {"pos": 1}, "refSeq": "M"},
{"break1Start": {"pos": 1}, "refSeq": "R"},
)

def test_same_refseq_matches(self):
assert match.compare_positional_variants(
{"break1Start": {"pos": 1}, "refSeq": "R"}, {"break1Start": {"pos": 1}, "refSeq": "R"}
conn,
{"break1Start": {"pos": 1}, "refSeq": "R"},
{"break1Start": {"pos": 1}, "refSeq": "R"},
)

def test_range_vs_sub(self):
Expand All @@ -364,8 +379,8 @@ def test_range_vs_sub(self):
"refSeq": "G",
"untemplatedSeq": "VV",
}
assert not match.compare_positional_variants(sub, range_variant)
assert not match.compare_positional_variants(range_variant, sub)
assert not match.compare_positional_variants(conn, sub, range_variant)
assert not match.compare_positional_variants(conn, range_variant, sub)


class TestMatchPositionalVariant:
Expand Down

0 comments on commit 3fae486

Please sign in to comment.